Eye Diseases

Analysis of all known genes associated with eye diseases

The Diagnostic Panel for Eye Diseases covers a wide range of monogenic diseases affecting different areas of the eye, the optic nerve, and primary eye anomalies. It also includes syndromal disorders such as Usher, Bardet-Biedl, Joubert, Senior-Løken, and Stickler syndromes, as well as syndromal albinism. Identifying a variation in a gene associated with these disorders can clarify the diagnosis and is important for the prognosis of the disease course and the family. In some cases, the finding also allows for targeted treatment of the disease.

The Diagnostic Panel for Eye Diseases is based on our proprietary, high-quality ExomeXtra® enrichment, covering all protein-coding regions as well as intronic and intergenic variants described as disease-relevant in the databases HGMD and ClinVar. In addition, the ExomeXtra® enrichment enables a genome-wide CNV calling with similar performance to array CGH. It thus provides the ideal basis for genetic diagnostics.

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What We Offer with the Panel for Eye Diseases

Updates

The gene selection is regularly adapted to the current scientific knowledge

Flexibility

With ExomeXtra®, gene sets addressing different diseases can be combined

Comprehensive Medical Report

Including the ACMG criteria used to classify the variants

Highest Quality

All steps are carried out in-house

Our Promise to You

Fast Turnaround Time

2–4 weeks after sample receipt

Safety

Highest confidentiality and quality standards

Reliability

Reliable support throughout all steps

Comprehensibility

Clearly prepared medical report

Your Benefits

It is possible to request single or multiple predefined gene sets. In addition to the complete analysis of the genes of the requested gene set, we extend the analysis by additional genes for differential diagnosis. We report variants of unknown significance (ACMG class 3) and pathogenic and probably pathogenic variants (ACMG classes 4 and 5) for the primarily ordered gene set. For the genes included due to differential diagnosis, we restrict the reporting to pathogenic and probably pathogenic variants (ACMG classes 4 and 5), which could be related to the indication of the person seeking advice.

The Diagnostic Panel for Eye Diseases is based on CeGaT’s ExomeXtra® enrichment. This allows, without additional sequencing, phenotypically eligible gene sets of other CeGaT panels or single genes to be additionally ordered. If you would like to assemble an individual panel, please feel free to contact us. We will be happy to support you.

In addition to the primary diagnostic assignment, the assessment of ACMG genes and pharmacogenetic profiling may also be ordered.

Method

The enrichment of the coding regions and the adjacent intronic regions is performed using an in-solution hybridization technology. The selection of the targeted regions and the design of the enrichment baits is performed in-house. High-throughput sequencing is performed on our Illumina platforms. Bioinformatic processing of the data is achieved using an in-house computer cluster.

Following data processing, our team of scientists and specialists in human genetics analyze the data and issue a medical report.

Sample Report

Information: The example report on epilepsy and brain development disorders illustrates how a report is structured.

General Information

Material

  • 1-2 ml EDTA blood (recommended sample type) or
  • 1-2 µg genomic DNA
  • Order Form with declaration of consent

Here you can find more information on how to ship your sample safely.

Costs

The prices for our human genetic diagnostics depend on the size of the selected diagnostic panel and the selected gene sets. All prices include sequencing, bioinformatic analysis, and issuing of a medical report by our team of experts in human genetic diagnostics.

Diagnostic Process

You can find the entire diagnostic process here

You can find the entire diagnostic process here

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Counseling & Test Selection

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Sampling & Shipment

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Sample Analysis

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Medical Report & Counseling

Gene Sets – Eye Diseases

Usher Syndrome (EYE01)

is listed on the order form “Hearing Loss“, subpanel EAR05.

Usher syndrome is a combination of sensorineural hearing loss and retinal degeneration. It is the most common cause of deafblindness and is inherited in an autosomal recessive manner. Depending on the symptoms’ onset and progression, Usher syndrome is divided into three subtypes, which also differ in the underlying genes. Type 1 and type 2 together account for 95 % of cases. Type 1 is associated with bilateral profound sensorineural hearing loss and a lack of vestibular function. Moderate hearing loss and normal vestibular function are characteristic of type 2. Type 3 leads to progressive hearing loss and variable vestibular function. The retinal degeneration, which is common to all three types, corresponds to retinitis pigmentosa: the first symptom is night blindness, and the vision loss begins in the periphery and progresses towards the center of the retina. While vision loss is not yet treatable, cochlear implants can facilitate speech and language development in small children. For a more detailed description of Usher syndrome, please refer to the following review article: Castiglione and Möller, 2022, PMID: 35076463.

Retinitis Pigmentosa (EYE02,116 Genes)

ABCA4, ABHD12, AGBL5, AHI1, AIPL1, AMACR, ARHGEF18, ARL2BP, ARL3, ARL6, BBS1, BBS2, BEST1, C1QTNF5, CA4, CACNA1F, CC2D2A, CDHR1, CEP290, CERKL, CFAP410, CFAP418, CHM, CLN3, CLRN1, CNGA1, CNGB1, CNGB3, COQ8B, CRB1, CRX, CWC27, CYP4V2, DHDDS, DHX38, EMC1, EYS, FAM161A, FLVCR1, GUCA1B, GUCY2D, HGSNAT, HK1, IDH3A, IDH3B, IFT140, IFT172, IMPDH1, IMPG1, IMPG2, INPP5E, KIAA1549, KIF3B, KIZ, KLHL7, LCA5, LRAT, MAK, MERTK, MFRP, MVK, NEUROD1, NMNAT1, NR2E3, NRL, OFD1, PCARE, PCDH15, PDE6A, PDE6B, PDE6G, POMGNT1, PRCD, PROM1, PRPF3, PRPF31, PRPF4, PRPF6, PRPF8, PRPH2, RAX2, RBP3, RBP4, RCBTB1, RDH11, RDH12, RDH5, REEP6, RGR, RHO, RLBP1, RP1, RP1L1, RP2, RPE65, RPGR, RPGRIP1, SAG, SCAPER, SEMA4A, SLC24A1, SLC37A3, SLC4A7, SLC7A14, SNRNP200, SPATA7, TBC1D32, TOPORS, TRNT1, TTC8, TUB, TULP1, USH2A, WDR19, ZNF408, ZNF513

Retinitis pigmentosa (RP) is actually a misnomer as it refers to a heterogeneous group of hereditary retinopathies of non-inflammatory origin. Due to the misleading name, the term retinopathia pigmentosa is increasingly being used, although this has not yet become established in the English language. The progressive loss of vision in retinitis pigmentosa is caused by a degeneration of rod photoreceptor cells with subsequent degeneration of cone photoreceptors. Patients with retinitis pigmentosa characteristically develop night blindness in adolescence. As the disease progresses, they lose their peripheral visual field but often maintain central vision until the very end stage of the disease (so-called tunnel vision). Complete blindness in retinitis pigmentosa is rather rare. The classic clinical triad of retinitis pigmentosa comprises an attenuation of retinal vessels, retinal pigment changes (so-called bone spicules), and a waxy optic disc pallor. The disease is predominantly bilateral and highly symmetrical. Unilateral retinitis pigmentosa almost always has non-genetic causes such as inflammation (e.g., uveitis), viral infections (e.g., rubella), or drug toxicity (e.g., chloroquine). Concomitant ocular symptoms of retinitis pigmentosa may include subcapsular cataracts, cystoid macular edema, and myopia. The severity of retinitis pigmentosa is partly determined by the mode of inheritance: X-linked cases have the most severe course, whereas autosomal recessive and sporadic cases show a moderately severe course. Autosomal dominant cases have the most favorable disease course, with a comparatively later onset and slower progression. In addition to the isolated forms, retinitis pigmentosa is frequently seen in syndromes such as Usher or Bardet-Biedl syndrome. For a more detailed description of retinitis pigmentosa, please refer to the following review article: Fahim et al., updated 2023, PMID: 20301590, GeneReviews.

Achromatopsia (EYE04, 7 Genes)

ATF6, CNGA3, CNGB3, CNNM4, GNAT2, PDE6C, PDE6H

Achromatopsia is a rare autosomal recessively inherited retinal disease caused by an impaired function of cone photoreceptors. The disease is also known as rod monochromacy because rod photoreceptors are not affected. Therefore, electroretinography is considered the gold standard for the diagnosis of achromatopsia. Cone function is severely or completely diminished, whereas rod function is normal. Symptoms manifest in early infancy and include marked photosensitivity, nystagmus, severely reduced visual acuity, and the inability to discriminate colors. To date, six causative genes have been identified, five of which encode components of the cone phototransduction cascade. The most frequently affected gene is CNGB3, followed by CNGA3. Pathogenic variants in the genes PDE6C, PDE6H, GNAT2 and ATF6 are much less frequently the cause of achromatopsia. For a more detailed description of achromatopsia, please refer to the following review article: Kohl et al., updated 2018, PMID: 20301591, GeneReviews.

Bardet-Biedl Syndrome (EYE05)

is listed on the order form “Ciliopathies“, subpanel CIL03.

Autosomal recessive Bardet-Biedl syndrome (BBS), historically also known as Laurence-Moon syndrome, is a ciliopathy and the second most common cause of syndromic retinal degeneration, after Usher syndrome. The clinical phenotype is highly variable. The most common symptoms include cone-rod dystrophy, obesity, postaxial polydactyly, intellectual disability, hypogonadotropic hypogonadism, and renal disease. Less common symptoms include ataxia, craniofacial anomalies, hypo-/microdontia, and anosmia/hyposmia. Cone-rod dystrophy manifests in almost all affected individuals in the first decade of life and, apart from polydactyly, is usually the first symptom diagnosed. The degeneration of the photoreceptors progresses rapidly and often leads to complete blindness in the second or third decade of life. Disorders to be considered in the differential diagnosis of BBS are Alström syndrome, in which there is no polydactyly, and Joubert syndrome, which is characterized by the pathognomonic cerebellar vermis aplasia that appears on MRI as so-called molar tooth sign. For a more detailed description of Bardet-Biedl syndrome, please refer to the following review article: Forsyth and Gunay-Aygun, updated 2023, PMID: 20301537, GeneReviews.

Congenital Stationary Night Blindness (EYE06, 18 Genes)

CABP4, CACNA1F, CHM, GNAT1, GNB3, GPR179, GRK1, GRM6, GUCY2D, LRIT3, NYX, PDE6B, RBP4, RIMS2, RLBP1, SAG, SLC24A1, TRPM1

Congenital stationary night blindness (CSNB) refers to a clinically and genetically distinct group of non-progressive retinal disorders caused by a malfunction of the rod photoreceptor system. The primary symptom is night blindness (nyctalopia), which is not experienced by all those affected. Other clinical features may include myopia, hyperopia, strabismus, nystagmus, and reduced visual acuity. The underlying inheritance mode can be autosomal dominant, autosomal recessive, or X-linked. Complete (cCSNB) and incomplete forms (iCSNB) can be differentiated by means of electroretinography (ERG): In the complete forms, the rod response is completely absent, whereas the incomplete forms show a partial rod response. Classification into the individual subtypes is also possible by fundus appearance: CSNB of the Schubert-Bornstein type (normal to the subnormal amplitude of the a-wave in ERG) and of the Riggs type (reduced amplitude of the a-wave) both show a normal fundus. In contrast, fundus albipunctatus is characterized by numerous small yellowish-white retinal lesions over the entire retina, only sparing the fovea. The Mizuo-Nakamura phenomenon characterizes Oguchi syndrome, which describes reversible changes in the fundus color from a gold leaf-like reflex under light exposure to the standard orange-red color after complete dark adaptation. For a more detailed description of CSNB, please refer to the following review article: Zeitz et al., 2015, PMID: 25307992.

Joubert Syndrome (EYE07)

is listed on the order form “Epilepsy & Brain Development Disorders“, subpanel BRN07.

Joubert syndrome is a ciliopathy usually inherited autosomal recessively and, in rare cases, X-linked. It is characterized by aplasia of the cerebellar vermis, which appears on MRI as a so-called molar tooth sign. An abnormal breathing pattern, nystagmus, and hypotonia already manifest in newborns. While breathing abnormalities improve with age, ataxia develops over time, and the acquisition of gross motor milestones is often delayed. Less common symptoms include retinal dystrophy, ocular colobomas, renal disease, occipital encephalocele, hepatic fibrosis, polydactyly, and oral hamartomas. Retinal dystrophy, which is diagnosed in up to one-third of those affected, usually resembles retinitis pigmentosa or, more rarely, Leber congenital amaurosis. For a more detailed description of Joubert syndrome, please refer to the following review article: Parisi and Glass, updated 2017, PMID: 20301500, GeneReviews.

Leber Congenital Amaurosis (EYE08, 24 Genes)

AIPL1, ALMS1, CEP290, CRB1, CRX, GUCY2D, IFT140, IMPDH1, INPP5E, IQCB1, KCNJ13, LCA5, LRAT, MERTK, NMNAT1, PROM1, PRPH2, RD3, RDH12, RPE65, RPGRIP1, SPATA7, TULP1, USP45

Leber congenital amaurosis (LCA) refers to a heterogeneous group of severe early-onset retinal dystrophies. With early-onset severe retinal dystrophy (EOSRD), LCA is the most severe of the early-onset forms of all hereditary retinal diseases. LCA is congenital or occurs in the first months of life and is characterized by the following symptoms: progressive vision loss up to blindness, delayed or abolished pupillary reflex, and nystagmus. A specific behavior called Franceschetti’s oculo-digital sign is characteristic of LCA. This sign consists of affected children poking, pressing, or rubbing their eyes with their knuckles or fingers. By applying pressure to their eyes, flashes of light (phosphenes) are provoked, which stimulate the brain. The inheritance of LCA is autosomal recessive. The most frequently affected genes are CEP290, CRB1 and RPE65. For the latter gene, treatment exists as a gene supplementation therapy with Voretigene neparvovec (brand name Luxturna®). Although gene therapy does not cure LCA, it delays vision loss in those treated. A prerequisite for treatment is a genetic diagnosis of confirmed biallelic RPE65 variants and a sufficient number of viable retinal cells. For a more detailed description of LCA/EOSRD, please refer to the following review article: Kumaran et al., updated 2023, PMID: 30285347, GeneReviews.

Senior-Loken Syndrome (EYE11)

is listed on the order form “Ciliopathies“, subpanel CIL04.

Senior-Loken syndrome is an autosomal recessive oculo-renal ciliopathy characterized by the combination of nephronophthisis with retinal dystrophy. Kidney symptoms manifest after birth or in childhood. Chronic kidney disease usually slowly progresses to end-stage renal insufficiency. In its severe form, retinal dystrophy can correspond to Leber congenital amaurosis, which manifests in early childhood and leads to severe vision loss with nystagmus and weak pupillary reflex. In its milder form, the ocular phenotype corresponds to tapeto-retinal degeneration with a severely restricted visual field and night blindness. Whether the renal or the ocular phenotype manifests first depends strongly on the underlying genetic defect: Patients with pathogenic variants in CEP290 or IQCB1 usually present early with retinopathy, whereas patients with INVS, NPHP3, or NPHP4 variants first develop nephronophthisis. Senior-Loken syndrome must be differentiated from other nephronophthisis-associated ciliopathies such as Bardet-Biedl, Joubert, and Jeune syndrome. For a more detailed description of nephronophthisis-related ciliopathies, please refer to the following review article: Stokman et al., updated 2023, PMID: 27336129, GeneReviews.

Stargardt Disease and Macular Dystrophies (EYE12, 25 Genes)

ABCA4, BEST1, C1QTNF5, CDH3, CDHR1, CFH, CLEC3B, CNGB3, CRB1, CRX, CTNNA1, DRAM2, EFEMP1, ELOVL4, GUCA1A, IMPG1, IMPG2, IRX1, MFSD8, PRDM13, PROM1, PRPH2, RP1L1, SAMD7, TIMP3

Macular dystrophies affect visual acuity even in their early stages, as the macula contains the retina’s highest density of cone photoreceptors, accounting for sharp central vision. Macular dystrophies, therefore, lead to a considerable reduction in central visual acuity, but not to complete blindness, as the peripheral visual field remains intact. The most common macular dystrophy is Stargardt disease, which is often referred to as fundus flavimaculatus due to the characteristic patchy yellow lesions of the retina. The disease usually manifests in the first or second decade. Depending on the causative genetic defect, inheritance is usually autosomal recessive (ABCA4) or, in rare cases, autosomal dominant (ELOVL4, PROM1). Another form of macular dystrophy is Best disease, which, like Stargardt disease, often begins in childhood and typically shows an egg yolk-like lesion of the macula in the early stages and is therefore also referred to as vitelliform macular dystrophy. Best disease, which is caused by pathogenic variants in the BEST1 gene, follows an autosomal dominant inheritance pattern. In contrast, biallelic pathogenic variants in BEST1 lead to autosomal recessive bestrophinopathy, in which multiple yellowish lesions are visible in the periphery instead of the vitelliform lesion in the macula. Rare macular dystrophies with a characteristic fundus appearance include North Carolina macular dystrophy (PRDM13), Doyne honeycomb dystrophy (EFEMP1), and Sorsby fundus dystrophy (TIMP3). For a more detailed description of macular dystrophies, please refer to the following review article: Raimondi et al., 2023, PMID: 37298674.

Cone and Cone Rod Dystrophies (EYE13, 48 Genes)

ABCA4, ADAM9, AIPL1, ALMS1, BEST1, CABP4, CACNA1F, CACNA2D4, CDHR1, CEP250, CEP290, CEP78, CERKL, CFAP410, CFAP418, CNGA3, CNGB3, CNNM4, CRB1, CRX, DRAM2, GNAT2, GUCA1A, GUCY2D, INPP5E, KCNV2, NMNAT1, PCARE, PDE6C, PDE6H, PITPNM3, POC1B, PROM1, PRPH2, RAB28, RAX2, RDH12, RGS9, RGS9BP, RIMS1, RIMS2, RPGR, RPGRIP1, SEMA4A, TLCD3B, TTLL5, UBAP1L, UNC119

Cone dystrophies and cone-rod dystrophies are characterized by an initial dysfunction of the central retina. Typical signs include progressive loss of visual acuity, photophobia, and central scotoma. Additional symptoms are dyschromatopsia and difficulties in light adaptation. Myopia, hyperopia or strabismus may also be present. In most patients, the first symptoms occur in the first two decades of life, but a later onset, after the fifth decade, is also possible. Whether a cone dystrophy progresses into a cone-rod dystrophy can only be determined after a long follow-up period. Differentiating from macular dystrophy is also difficult, and, in the early stages, is only feasible using full-field electroretinography. For a more detailed description of cone dystrophies and cone-rod dystrophies, please refer to the following review article: Gill et al., 2019, PMID: 30679166.

Flecked Retina Disorders (EYE14, 16 Genes)

ABCA4, CHM, CYP4V2, EFEMP1, ELOVL4, KCNJ13, LRAT, OAT, PLA2G5, PRPH2, RDH5, RHO, RLBP1, RPE65, TEAD1, VPS13B

Flecked retina disorders are a group of conditions characterized by multiple retinal lesions of various sizes and configurations. They may be stationary or progressive and range from benign to marked visual impairment. A benign flecked retina leads to an asymptomatic clinical phenotype with normal visual function as the retinal lesions spare the foveal region. In contrast, fundus albipunctatus manifests in childhood with non-progressive night blindness and prolonged cone and rod adaptation times in electroretinography. If the lesions affect the macula, central visual acuity can decrease with age. Inheritance can be autosomal recessive or autosomal dominant. Fundus flavimaculatus forms a continuum with Stargardt disease. In comparison, it tends to have a slower progression rate and a later onset than Stargardt disease. Over time, visual acuity may decrease and color vision disturbances may develop. The inheritance mode can be autosomal recessive or autosomal dominant. The fundus of Bietti crystalline dystrophy shows numerous small, glistening yellow-white crystals scattered throughout the posterior pole that lead to degeneration of the retinal pigment epithelium, sclerosis of the choroidal vessels, and subsequent vision loss. A marked asymmetry between eyes is commonly observed. Bietti crystalline dystrophy is exclusively caused by biallelic pathogenic variants in the CYP4V2 gene. The fundus of choroidal dystrophies is also characterized by a flecked appearance since the loss of the retina, the choroid, and the retinal pigment epithelium leads to exposure of the underlying sclera. These include, for example, choroideremia which predominantly affects males due to the X-linked inheritance (CHM gene). Choroideremia manifests in childhood with nyctalopia and progresses to peripheral vision loss in the teenage years. Central vision usually stays intact until the fifth decade of life. After that, most patients experience a rapid deterioration of visual acuity.

Vitreoretinopathies (Familial Exudative Vitreoretinopathy/Wagner Syndrome/Norrie Syndrome/Knobloch Syndrome) (EYE15, 21 Genes)

ATOH7, BEST1, CAPN5, COL18A1, COL2A1, CTNNA1, CTNNB1, FZD4, JAG1, KCNJ13, KIF11, LRP5, NDP, NR2E3, P3H2, RCBTB1, RS1, SNX31, TSPAN12, VCAN, ZNF408

Hereditary vitreoretinopathies are characterized by a pathological architecture of the vitreous and associated retinal changes. There is an increased risk of retinal detachment, which can already occur in children and young adults. The most common hereditary vitreoretinopathy with exclusively ocular symptoms is familial exudative vitreoretinopathy (FEVR), which is characterized by avascularity in the temporal area of the retinal periphery with subsequent neovascularization and is inherited either autosomal dominantly (genes FZD4 and TSPAN12) or autosomal recessively (genes LRP5 and NDP). A reduction in visual acuity is usually only observed in the retinal periphery, but the risk of retinal detachment is increased. Wagner syndrome is much less frequent than FEVR and is exclusively caused by heterozygous pathogenic variants in the VCAN gene. Morphological findings include an optically empty vitreous and retinal-choroidal dystrophy. The disease manifests in adolescence with moderate myopia and progressive visual impairment. Cataract may also occur. Secondary open-angle glaucoma develops in around a third of those affected. Vitreoretinopathy with additional systemic involvement occurs in several syndromes, of which Stickler syndrome is the most common (see panel CTD01). Knobloch syndrome is caused by biallelic pathogenic variants in the COL18A1 gene and is characterized by very early-onset severe myopia, vitreoretinal degeneration with retinal detachment, macular abnormalities, and occipital encephalocele. X-linked recessive Norrie syndrome is caused by pathogenic variants in the NDP gene and manifests as congenital blindness. A typical hallmark is bilateral pseudogliomatous retinal hyperplasia. Sensorineural hearing loss and developmental delay, intellectual disability, and/or behavioral disorders are also common. The vast majority of those affected are male. Only in sporadic cases do female carriers show decreased vision or mild sensorineural hearing loss. For a more detailed description of hereditary vitreoretinopathies, please refer to the following review article: Ghoraba et al., 2025, PMID: 39837650.

Stickler Syndrome (EYE16)

is listed on the order form “Connective Tissue Diseases“, subpanel CDT01.

Stickler syndrome is an arthro-ophthalmopathy characterized by ocular symptoms such as juvenile cataract, severe myopia (> -3 dpt), strabismus, vitreoretinal or chorioretinal degeneration, retinal detachment, and chronic uveitis. Extraocular symptoms include cleft palate (isolated or as part of a Pierre Robin sequence), sensorineural hearing loss (sometimes with conductive hearing loss), hypermobile joints with subsequent arthritic changes, platyspondyly, and dysplastic epiphyses. To date, all the genes associated with Stickler syndrome code for components of collagen fibers. The underlying inheritance mode is predominantly autosomal dominant (genes COL2A1, COL11A1, COL11A2) and very rarely autosomal recessive (genes COL9A1, COL9A2, COL9A3). The majority of cases are caused by pathogenic variants in the COL2A1 gene. While lens dislocations are rare in Stickler syndrome, the risk of retinal detachment is significantly increased and may require surgical intervention. As the dysmorphic signs can be very subtle, Stickler syndrome is considered to be underdiagnosed. In the case of apparently isolated juvenile myopia and cataract, Stickler syndrome should, therefore, always be considered as differential diagnosis. For a more detailed description of Stickler syndrome, please refer to the following review article: Mortier, updated 2023, PMID: 20301479, GeneReviews.

Optic Atrophy and Leber Hereditary Optic Neuropathy (EYE17, 33 Genes)

ACO2, AFG3L2, ANTXR1, ATP1A3, CISD2, DNAJC30, DNM1L, FA2H, FDXR, KLC2, MCAT, MECR, MFN2, MIEF1, MT-ND1, MT-ND4, MT-ND6, MTRFR, NDUFA12, NDUFS2, NR2F1, OPA1, OPA3, RTN4IP1, SLC25A46, SLC52A2, SNF8, SPG7, SSBP1, TIMM8A, TMEM126A, UCHL1, WFS1

Inherited optic neuropathies lead to a progressive loss of retinal ganglion cells and their axons, which form the optic nerve. This leads to impairment of visual acuity, central visual field, and color discrimination – the latter is characterized by a protan defect. Another key symptom is a pale-appearing optic disc. Among the inherited optic neuropathies, Leber hereditary optic neuropathy (LHON) and dominant optic atrophy (DOA) are the two most common conditions seen in clinical practice. LHON is characterized by a sudden and initially unilateral loss of visual acuity, which occurs mainly in young men. A reduction in visual acuity in the other eye usually sets in within a few weeks. In DOA, visual impairment is mostly bilateral and usually begins in childhood. The family history of DOA is usually positive in terms of an autosomal dominant inheritance mode, but penetrance may be reduced. Three variants in the mitochondrial DNA account for ~95% of all cases of LHON, whereas about 70% of DOA cases harbor pathogenic variants in the OPA1 gene. In about 20% of DOA cases, extraocular symptoms may be seen, such as sensorineural hearing loss, myopathy, chronic progressive external ophthalmoplegia, ataxia, and peripheral neuropathy. This clinical picture is also referred to as DOA plus. While there is currently no treatment option for DOA, some cases of LHON improve or even go into complete remission if treatment with the antioxidant idebenone (trade name Raxone®) is started soon after diagnosis. For a more detailed description of inherited optic neuropathies, please refer to the following review articles: Yu-Wai-Man and Chinnery, updated 2021, PMID: 20301353, GeneReviews and Lenaers et al., 2021, PMID: 33340656.

Ocular and Oculocutaneous Albinism (EYE18)

is listed on the order form “Skin Diseases“, subpanel DRM01.

Albinism can be divided into ocular albinism (OA) and oculocutaneous albinism (OCA). OA is characterized by a complete or partial loss of melanin in the eyes. In OCA, the loss of melanin also affects the skin and hair follicles. Syndromic forms of oculocutaneous albinism are frequently associated with neurologic symptoms and immune defects (see panel EYE19). OA shows X‑linked inheritance, whereas the inheritance mode of OCA is autosomal recessive. Typical ocular symptoms in both forms are fundus hypopigmentation and iris transillumination defects, which are also frequently found in female carriers. Most affected individuals have nystagmus and show foveal hypoplasia, which leads to reduced visual acuity depending on its grade. The extent of skin and hair hypopigmentation in OCA is highly variable and may change with age. All cases are at higher risk for acute and chronic UV damage, so consistent protection from UV light and regular check-ups are advisable. For a more detailed description of ocular and oculocutaneous albinism, please refer to the following review article: Thomas et al., 2023, PMID: 37053367, GeneReviews.

Syndromal Albinism (Hermansky-Pudlak/Waardenburg/Vici/Griscelli/Chediak-Higashi) (EYE19)

is listed on the order form “Skin Diseases“, subpanel DRM02.

Oculocutaneous albinism (see panel DRM01) can be a manifestation of various inherited syndromes that are associated with increased susceptibility to infections, bleeding diathesis, and neurological symptoms. One is Hermansky-Pudlak syndrome, an autosomal recessively inherited syndromic disease characterized by the triad of oculocutaneous albinism, bleeding diathesis, and lysosomal accumulation of ceroid lipofuscin. Neutropenia, recurrent infections, and an increased incidence of malignant lymphomas are frequent symptoms. The most noticeable symptoms of Waardenburg syndrome, which are not necessarily present in all cases, are a white forelock, irides of different colors, and vitiligo. Some cases also show dystopia canthorum, i.e., a lateral displacement of the inner corners of the eyes. A more frequent symptom is congenital and non-progressive sensorineural hearing loss. Inheritance can be either autosomal dominant or autosomal recessive. The autosomal recessively inherited Griscelli syndrome is characterized by pale skin and silver-grey hair. In some cases, hepatosplenomegaly, neutropenia, and thrombocytopenia are also present. Chediak-Higashi syndrome, which follows an autosomal recessive inheritance mode, is characterized by partial oculocutaneous albinism, immunodeficiency, a mild bleeding tendency, and late adolescent- to adult-onset neurologic manifestations. A pathognomonic symptom of Chediak-Higashi syndrome is giant granules within leukocytes on peripheral blood smear. All affected individuals are at risk of developing hemophagocytic lymphohistiocytosis. For a more detailed description of syndromal albinism, please refer to the following review articles: Introne et al., updated 2023, PMID: 20301464, GeneReviews; Milunsky, updated 2022, PMID: 20301703, GeneReviews; Toro et al., updated 2023, PMID: 20301751, GeneReviews.

Ocular Malformations (Microphthalmia/Anophthalmia/Nanophthalmia/Coloboma) (EYE20, 43 Genes)

ABCB6, ALDH1A3, ATOH7, BCOR, BEST1, BMP4, CHD7, COL4A1, CRB1, FOXE3, FOXL2, FREM1, FREM2, FZD5, GDF3, GDF6, HCCS, HMX1, MAB21L2, MFRP, MYRF, NAA10, NDP, OTX2, PAX2, PAX6, PIGL, PRR12, PRSS56, PXDN, RARB, RAX, RBP4, SHH, SIX6, SMOC1, SOX2, STRA6, TENM3, TMEM98, VAX1, VSX2, YAP1

Congenital anophthalmia, the complete absence of the eye, is part of more than 50 different syndromes. Microphthalmia, which is characterized by a hypoplastic eye, and nanophthalmia, which refers to a small eye with a severely shortened axial length, are often accompanied by other symptoms, including extraocular symptoms. The term ocular coloboma describes a focal discontinuity in the eye. These defects can involve different structures, such as the iris, lens choroid, and retina. Syndromes in which anophthalmia/microphthalmia or coloboma frequently occur include, for example, Pätau syndrome, Fraser syndrome, and CHARGE syndrome. In some cases, the structural defects of the eye occur isolated without systemic anomalies: The microphthalmia-anophthalmia-coloboma complex (MAC) comprises a group of disorders characterized by a variable combination of anophthalmia, microphthalmia, and ocular coloboma. Due to its considerable genetic heterogeneity, the underlying inheritance can be autosomal dominant, autosomal recessive, or X-linked. Non-genetic causes of microphthalmia include infections (e.g., with rubella or toxoplasmosis), smoking, increased alcohol consumption, and the use of teratogenic drugs during pregnancy. For a more detailed description of ocular malformations, please refer to the following review article: Guarnera et al., 2024, PMID: 38322500.

Cataract (EYE21, 82 Genes)

ABHD12, ADAMTSL4, AGK, ALDH18A1, ARPC4, BCOR, BFSP1, BFSP2, CHMP4B, CLPB, COL18A1, COL4A1, CRYAA, CRYAB, CRYBA1, CRYBA2, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CRYGB, CRYGC, CRYGD, CRYGS, CTDP1, CYP27A1, DNMBP, DPAGT1, EPG5, EPHA2, EYA1, FAR1, FOXE3, FTL, FYCO1, GALK1, GALT, GCNT2, GEMIN4, GFER, GJA1, GJA3, GJA8, HMX1, HSF4, HYCC1, INPP5K, INTS1, JAM3, LEMD2, LIM2, LSS, MAF, MIP, MIR184, MSMO1, NACC1, NDP, NF2, NHS, OCRL, OPA3, P3H2, PAX6, PEX7, PITX3, PXDN, RAB3GAP1, RAB3GAP2, RECQL4, SC5D, SIL1, SIPA1L3, SLC16A12, SLC33A1, TDRD7, UNC45B, VIM, VSX2, WFS1, WRN, ZBTB20

In contrast to senile cataracts, hereditary cataracts, i.e., partial or complete lens opacities, are present at birth or manifest in early childhood. Infantile cataracts are usually bilateral, and in around one-third of cases, they occur in association with a metabolic or systemic disease, such as galactosemia, hyperferritinemia-cataract syndrome, or Aymé-Gripp syndrome. Inheritance can be autosomal dominant, autosomal recessive, or X-linked. In severe cases, the lenses should be removed at the age of 4-6 weeks to prevent amblyopia. With early intervention and appropriate optical rehabilitation, the prognosis is very good. Intrauterine infections, such as rubella or toxoplasmosis should be considered as differential diagnoses. For a more detailed description of infantile cataracts, please refer to the following review article: Lenhart and Lambert, 2022, PMID: 35307324.

Septo-Optical Dysplasia (EYE22, 7 Genes)

FGF8, FGFR1, HESX1, OTX2, PAX6, SOX2, SOX3

Septo-optic dysplasia (SOD) is a congenital malformation diagnosed in children with two or more of the following: optic nerve hypoplasia, midline brain abnormalities, and hypopituitarism. Symptoms may vary greatly in their severity. About one-quarter of children show nystagmus within the first three months of life, which can be followed by strabismus. The most frequently observed endocrine anomaly is a growth hormone deficiency resulting in short stature. The midline brain defects may cause intellectual disability and neurological manifestations such as seizures and cerebral palsy. In some cases, additional symptoms develop, such as diabetes insipidus, sleep disorders, autism, precocious puberty, anosmia, and sensorineural hearing loss. While the majority of SOD cases are sporadic, familial cases with both autosomal recessive and autosomal dominant transmission have been described. For a more detailed description of septo-optical dysplasia, please refer to the following review article: Webb and Dattani, 2010, PMID: 19623216.

Glaucoma (EYE23, 16 Genes)

COL18A1, CYP1B1, EFEMP1, FOXC1, FOXE3, LMX1B, LTBP2, MYOC, NTF4, OPTN, PAX6, PITX2, SLC4A4, TBK1, TEK, WDR36

Glaucoma is a group of eye diseases characterized by irreversible damage to the optic nerve fibers. Visual field loss in advanced disease stages can lead to blindness. Most glaucoma cases, which only manifest in late adulthood, have a multifactorial cause. The main risk factors are older age and increased intraocular pressure due to an obstruction of aqueous outflow. In contrast to the late-onset forms, congenital or infantile glaucoma often have a monogenic cause. Inheritance can be either autosomal dominant or autosomal recessive. Congenital glaucoma can be primarily by isolated trabecula dysgenesis or secondary as part of syndromic disorders such as aniridia or Axenfeld-Rieger syndrome. Congenital glaucoma is often recognized by the enlarged eyeballs of infants (buphthalmos/hydrophthalmos), as the increased intraocular pressure causes an increase in both axial length and corneal diameter. Further symptoms are epiphora, blepharospasm, and photophobia. Another characteristic finding is breaks in the Descemet’s membrane of the cornea (Haab striae). Surgical intervention to restore the aqueous humor outflow can normalize intraocular pressure. For a more detailed description of congenital and infantile glaucoma, please refer to the following review article: Kumar et al., 2024, PMID: 38386645.

Corneal Dystrophies (EYE24, 27 Genes)

AGBL1, CHST6, COL17A1, COL8A2, CYP4V2, DCN, GLA, GRHL2, GSN, KRT12, KRT3, LCAT, MCOLN1, MIR184, OVOL2, PAX6, PIKFYVE, PRDM5, SLC4A11, TACSTD2, TCF4, TGFBI, TUBA3D, UBIAD1, VSX1, ZEB1, ZNF469

The corneal dystrophies are a group of primarily bilateral, non-inflammatory, inherited cornea disorders characterized by structural abnormalities and opacification of the cornea which can lead to astigmatism and vision loss. The dystrophies are grouped according to the corneal layer they affect: 1. epithelial and subepithelial dystrophies (e.g., Franceschetti corneal dystrophy), 2. epithelial-stromal TGFBI dystrophies (e.g., Thiel–Behnke corneal dystrophy), 3. stromal dystrophies (e.g., Schnyder corneal dystrophy), and 4. endothelial dystrophies (e.g., Fuchs endothelial corneal dystrophy). Most corneal dystrophies show an autosomal dominant form of inheritance with high penetrance, while very few reflect autosomal recessive conditions. Treatment options range from lubricating drops and ointments in mild cases to surgical interventions and corneal transplants in severe cases. For a more detailed description of corneal dystrophies and in particular their classification, please refer to the following article: Weiss et al., 2024, PMID: 38359414.

Ectopia Lentis (EYE25, 6 Genes)

ADAMTSL4, ASPH, CPAMD8, FBN1, LTBP2, P3H2

Ectopia lentis is a displacement of the eye’s lens into the anterior chamber or into the vitreous. This can occur partially (subluxation) or completely. Ectopia lentis can occur after trauma due to a violent displacement of the lens or rupture of the zonular fibres that anchor the lens to the ciliary body. Spontaneous lens dislocations can occur as a secondary complication of high myopia or advanced cataracts. In hereditary ectopia lentis, the lens dislocation is usually bilateral and caused by abnormal development of ciliary zonules. Ectopia lentis is a major criterion for diagnosing Marfan syndrome and is found in more than 50% of all cases. Marfan syndrome is caused by pathogenic variants in the FBN1 gene, which follow an autosomal dominant mode of inheritance. An autosomal recessive form of ectopia lentis is caused by variants in the ADAMTSL4 gene. Homocystinuria and Stickler, Knobloch, or Weill-Marchesani syndrome should be considered as differential diagnoses, as ectopia lentis may be part of the symptoms. For a more detailed description of hereditary ectopia lentis, please refer to the following review articles: Dietz, updated 2022, PMID: 20301510, GeneReviews and Rødahl et al., updated 2020, PMID: 22338190, GeneReviews.

Infantile Nystagmus (Non-Albinism Related) and Foveal Hypoplasia (EYE26, 10 Genes)

CACNA1A, CACNA1F, CNNM4, DAGLA, FRMD7, GPR143, PAX6, RIMS2, SETX, SLC38A8

Infantile nystagmus refers to any involuntary oscillatory eye movement disorder that occurs in the first 6 months of life and is not associated with medication or other causes of acquired nystagmus. Infantile nystagmus is mainly horizontal, although vertical and/or torsional movement may be a secondary component. It can be idiopathic or associated with ocular, neurologic, and systemic disease. Retinopathies should always be considered as differential diagnosis, as nystagmus is a common symptom of congenital or infantile retinal diseases such as achromatopsia or Leber congenital amaurosis. FRMD7-associated nystagmus follows an X-linked inheritance mode. Electroretinography is normal, and visual acuity is typically better than 6/12. An abnormal head posture is seen in approximately 15% of affected individuals. Penetrance is complete in males and approximately 50% in females. GPR143-associated nystagmus also follows an X-linked inheritance mode. However, unlike FRMD7-associated nystagmus, those affected may show foveal hypoplasia, retinal hypopigmentation, and chiasmal misrouting. Visual acuity is slightly lower in GPR143-associated nystagmus than in FRMD7-associated nystagmus. Female carriers are usually not affected, although their fundus can show patchy mottling or streaking of pigment in the midperipheral retina (pigmentary mosaicism). For a more detailed description of FRMD7-associated nystagmus, please refer to the following review article: Thomas et al., updated 2018, PMID: 20301748, GeneReviews. A comparison of clinical symptoms of FRMD7– and GPR143-associated nystagmus can be found in Huang et al., 2024, PMID: 38648460.

Progressive External Ophthalmoplegia (EYE27, 17 Genes)

DGUOK, DNA2, MGME1, MYF5, MYH2, OPA1, POLG, POLG2, RNASEH1, ROBO3, RRM2B, SLC25A4, SPG7, TK2, TOP3A, TWNK, TYMP

Progressive external ophthalmoplegia (PEO) occurs mainly in adults and is characterized by progressive weakness of the external eye muscles, leading to bilateral ptosis and diffuse ophthalmoparesis. Diplopia does not usually occur as the ophthalmoparesis is almost symmetrical. In contrast to central gaze palsy, all oculomotor brainstem functions, such as saccades, optokinetics, and vestibulo-ocular reflex, are intact but slowed down due to the severe paralysis. Cases with additional extraocular symptoms are more common than isolated PEO. These include, in particular, oropharyngeal and skeletal muscle involvement, manifesting as dysphagia and exercise intolerance. Other symptoms may include peripheral neuropathy, ataxia, encephalopathy, epilepsy, and sensorineural hearing loss. Three syndromic forms of PEO are listed below as examples: Kearns-Sayre syndrome is defined by the triad of PEO, pigmentary retinopathy, and onset before age 20. Affected individuals have at least one of the following conditions: complete heart block, cerebrospinal fluid protein of more than 100 mg/dL, cerebellar ataxia, short stature, deafness, dementia, and endocrine abnormalities. Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is characterized by PEO, gastrointestinal dysmotility, cachexia, peripheral neuropathy, and leukoencephalopathy, whereas sensory-ataxic neuropathy with dysarthria and ophthalmoparesis (SANDO) is characterized by ataxic gait, sensory deficits, and areflexia in addition to PEO. The isolated and syndromic PEO inheritance is often mitochondrial with large deletions and point mutations. However, autosomal inheritance (dominant or recessive) can also occur as a result of pathogenic variants in nuclear-encoded mitochondrial genes. The affected nuclear genes, in turn, lead to multiple deletions of the mitochondrial DNA, as they are involved in the repair, replication, and maintenance of the mitochondrial DNA or the entire mitochondria. Myasthenia, gaze palsy, oculomotor nerve palsy (N.III paresis), brainstem lesions, senile ptosis, and fibrosis syndrome should be considered as differential diagnoses of PEO. Ptosis surgery is recommended to prevent the cornea from drying out due to poor lid closure. For a more detailed description of progressive external ophthalmoplegia, please refer to the following review article: Hirano and Pitceathly, 2023, PMID: 36813323.

Congenital Cranial Dysinnervation Disorders / Strabismus (EYE28, 14 Genes)

CHN1, ECEL1, HOXA1, HOXB1, KIF21A, MAFB, MYH10, PHOX2A, PLXND1, ROBO3, SALL4, TUBA1A, TUBB2B, TUBB3

Congenital cranial dysinnervation disorders (CCDDs) comprise a range of congenital strabismus disorders characterized by a non-progressive impairment of oculomotor function with or without ptosis. They are caused by impaired innervation of the extraocular muscles due to abnormal development of the nuclei of the affected cranial nerves in the brainstem and pons. Brain imaging can aid in defining subtypes of these disorders by assessing the cranial nerves and the affected structures. The most common CCDDs are Duane retraction syndrome, Möbius syndrome, and congenital fibrosis of extraocular muscles. Duane retraction syndrome usually occurs sporadically and is characterized by non-progressive horizontal ophthalmoplegia without ptosis. Females are more frequently affected than males. It is typically unilateral, with more affection for the left eye. Bilaterality can be an indicator of autosomal dominant inheritance. Möbius syndrome occurs equally in both sexes and is mostly sporadic. It is characterized by facial diplegia, which results in a mask-like facial appearance. The incomplete closure of the lips leads to feeding difficulties and drooling in infancy. Other associated symptoms can include deafness, trigeminal nerve sensitivity disorders, dysphagia, dysphonia, and tongue hypoplasia. Congenital fibrosis of extraocular muscles (CFEOM) is a severe form of strabismus. Vertical eye movements are limited to an extent that patients’ eyes are often stuck in infraduction. Horizontal eye movement deficits range from full horizontal motility to nearly complete ophthalmoplegia. Ptosis is a common feature but not always present. In contrast to Duane retraction or Möbius syndrome, CFEOM is usually inherited. The inheritance mode can be autosomal dominant or autosomal recessive. In all suspected cases of CCDD, neonatal stroke or neoplasms should be considered as a differential diagnosis. Surveillance is important in CCDDs for the prevention and treatment of amblyopia, and potential complications arising from corneal exposure due to incomplete lid closure. For a more detailed description of congenital cranial dysinnervation disorders, please refer to the following review articles: Whitman et al., updated 2021, PMID: 20301522, GeneReviews and Berry et al., updated 2019, PMID: 20301369, GeneReviews.

Gene Directory — Panel for Eye Diseases

ABCA4, ABCB6, ABHD12, ACO2, ADAM9, ADAMTSL4, AFG3L2, AGBL1, AGBL5, AGK, AHI1, AIPL1, ALDH18A1, ALDH1A3, ALMS1, AMACR, ANTXR1, ARHGEF18, ARL2BP, ARL3, ARL6, ARPC4, ASPH, ATF6, ATOH7, ATP1A3, BBS1, BBS2, BCOR, BEST1, BFSP1, BFSP2, BMP4, C1QTNF5, CA4, CABP4, CACNA1A, CACNA1F, CACNA2D4, CAPN5, CC2D2A, CDH3, CDHR1, CEP250, CEP290, CEP78, CERKL, CFAP410, CFAP418, CFH, CHD7, CHM, CHMP4B, CHN1, CHST6, CISD2, CLEC3B, CLN3, CLPB, CLRN1, CNGA1, CNGA3, CNGB1, CNGB3, CNNM4, COL17A1, COL18A1, COL2A1, COL4A1, COL8A2, COQ8B, CPAMD8, CRB1, CRX, CRYAA, CRYAB, CRYBA1, CRYBA2, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CRYGB, CRYGC, CRYGD, CRYGS, CTDP1, CTNNA1, CTNNB1, CWC27, CYP1B1, CYP27A1, CYP4V2, DAGLA, DCN, DGUOK, DHDDS, DHX38, DNA2, DNAJC30, DNM1L, DNMBP, DPAGT1, DRAM2, ECEL1, EFEMP1, ELOVL4, EMC1, EPG5, EPHA2, EYA1, EYS, FA2H, FAM161A, FAR1, FBN1, FDXR, FGF8, FGFR1, FLVCR1, FOXC1, FOXE3, FOXL2, FREM1, FREM2, FRMD7, FTL, FYCO1, FZD4, FZD5, GALK1, GALT, GCNT2, GDF3, GDF6, GEMIN4, GFER, GJA1, GJA3, GJA8, GLA, GNAT1, GNAT2, GNB3, GPR143, GPR179, GRHL2, GRK1, GRM6, GSN, GUCA1A, GUCA1B, GUCY2D, HCCS, HESX1, HGSNAT, HK1, HMX1, HOXA1, HOXB1, HSF4, HYCC1, IDH3A, IDH3B, IFT140, IFT172, IMPDH1, IMPG1, IMPG2, INPP5E, INPP5K, INTS1, IQCB1, IRX1, JAG1, JAM3, KCNJ13, KCNV2, KIAA1549, KIF11, KIF21A, KIF3B, KIZ, KLC2, KLHL7, KRT12, KRT3, LCA5, LCAT, LEMD2, LIM2, LMX1B, LRAT, LRIT3, LRP5, LSS, LTBP2, MAB21L2, MAF, MAFB, MAK, MCAT, MCOLN1, MECR, MERTK, MFN2, MFRP, MFSD8, MGME1, MIEF1, MIP, MIR184, MSMO1, MT-ND1, MT-ND4, MT-ND6, MTRFR, MVK, MYF5, MYH10, MYH2, MYOC, MYRF, NAA10, NACC1, NDP, NDUFA12, NDUFS2, NEUROD1, NF2, NHS, NMNAT1, NR2E3, NR2F1, NRL, NTF4, NYX, OAT, OCRL, OFD1, OPA1, OPA3, OPTN, OTX2, OVOL2, P3H2, PAX2, PAX6, PCARE, PCDH15, PDE6A, PDE6B, PDE6C, PDE6G, PDE6H, PEX7, PHOX2A, PIGL, PIKFYVE, PITPNM3, PITX2, PITX3, PLA2G5, PLXND1, POC1B, POLG, POLG2, POMGNT1, PRCD, PRDM13, PRDM5, PROM1, PRPF3, PRPF31, PRPF4, PRPF6, PRPF8, PRPH2, PRR12, PRSS56, PXDN, RAB28, RAB3GAP1, RAB3GAP2, RARB, RAX, RAX2, RBP3, RBP4, RCBTB1, RD3, RDH11, RDH12, RDH5, RECQL4, REEP6, RGR, RGS9, RGS9BP, RHO, RIMS1, RIMS2, RLBP1, RNASEH1, ROBO3, RP1, RP1L1, RP2, RPE65, RPGR, RPGRIP1, RRM2B, RS1, RTN4IP1, SAG, SALL4, SAMD7, SC5D, SCAPER, SEMA4A, SETX, SHH, SIL1, SIPA1L3, SIX6, SLC16A12, SLC24A1, SLC25A4, SLC25A46, SLC33A1, SLC37A3, SLC38A8, SLC4A11, SLC4A4, SLC4A7, SLC52A2, SLC7A14, SMOC1, SNF8, SNRNP200, SNX31, SOX2, SOX3, SPATA7, SPG7, SSBP1, STRA6, TACSTD2, TBC1D32, TBK1, TCF4, TDRD7, TEAD1, TEK, TENM3, TGFBI, TIMM8A, TIMP3, TK2, TLCD3B, TMEM126A, TMEM98, TOP3A, TOPORS, TRNT1, TRPM1, TSPAN12, TTC8, TTLL5, TUB, TUBA1A, TUBA3D, TUBB2B, TUBB3, TULP1, TWNK, TYMP, UBAP1L, UBIAD1, UCHL1, UNC119, UNC45B, USH2A, USP45, VAX1, VCAN, VIM, VPS13B, VSX1, VSX2, WDR19, WDR36, WFS1, WRN, YAP1, ZBTB20, ZEB1, ZNF408, ZNF469, ZNF513

Additional Services

HLA-Typing (HLA01)

HLA alleles (HLA class I (Gene A, B, C) and HLA class II (Gene DPA1, DPB1, DQA1, DQB1, DRB1, DRB3, DRB4, DRB5))

ACMG Genes

Genetic variation may sometimes be identified, which does not fit within the scope of the requested genetic analysis (so-called secondary findings). The reporting of these variants is limited to pathogenic alterations (ACMG classes 4 and 5) within selected genes, for which a treatment or course of action exists for you or your family (according to the current guidelines of the American College of Medical Genetics and Genomics).

Details on ACMG genes and associated diseases can be found here

Pharmacogenetics (PGX)

Pharmacogenetic analysis detects genetic changes that affect the effectiveness of drugs. Genetic variants that affect proteins responsible for the metabolism of substances can significantly change their tolerance and efficacy. These drugs include, among others, antidepressants, pain relievers, neuroleptics, chemotherapeutics, AIDS drugs, thrombosis drugs, anesthetics, beta-blockers, or statins.

The reduced activity of a specific enzyme can lead to an increased drug level in the standard dosage, which is often associated with undesirable side effects. With drugs that are only activated by metabolism, the therapeutic effect can be completely absent. Likewise, due to the resulting increased rate of degradation of the medicinal substance, an increased enzyme activity leads to inadequate effectiveness of the therapy.

The pharmacogenetics option analyzes known variants in twenty-one genes involved in the metabolism of drugs. If specific gene variants occur, the treating doctor can adapt the therapy individually. The pharmacogenetic analysis can minimize serious side effects and helps to avoid failure of the treatment.

Details on PGX genes and further infomation can be found here

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