Tomcikova D, Gerinec A, Busanyova B, Gresikova M, Biskup S, Hortnagel K
To inform about a case of Revesz syndrome (RS) with initial ophthalmological symptomatology of severe proliferative vitreoretinopathy of the left eye (LE). After the aplastic anemia had developed, RS was established. The exudative retinopathy was successfully treated with photocoagulation on the right eye (RE).
RS is characterized by fatal bone marrow failure, exudative retinopathy, neuroradiographic abnormalities, neurodevelopmental delay and skin abnormalities. Non-treated exudative retinopathy leads to blindness.
We report ophthalmological findings as follows: fundus photography and fluorescein angiography (FA) acquired by examinations under general anesthesia in patient with RS. Results of genetic tests helped to establish the diagnosis.
Two‑year old Caucasian male was examined due to total retinal detachment on LE and signs of chorioretinal scarring on RE. In preoperative screening, thrombocytopenia was detected; later, severe pancytopenia developed. Considering the hematological findings and clinical appearance, we suspected RS, which was confirmed by genetic tests. We found a pathogenic mutation in gene TINF2 (variant c.865C>T;p.Pro289Ser) in a mosaic state with autosomal dominant mode of inheritance. This mutation has not been described in RS yet. Blind LE was enucleated because of dolorous neovascular glaucoma. FA of RE shows excessive areas of capillary nonperfusion with vascular abnormalities and exudation. After the photocoagulation, the visual acuity (VA) on RE remains 0.9 at the age of 7 years.
RS is an extremely rare condition. The initial symptomatology could be ophthalmological or hematological. The positive finding of TINF2 gene mutation helped in establishing the correct diagnosis. The ischemic retinopathy was successfully treated by photocoagulation (Fig. 6, Ref. 6).
- Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.
- Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.
- Genes & Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, Oklahoma, USA.
- Institut für Humangenetik, Universitätsklinikum Schleswig-Holstein, Lübeck, Germany.
- MVZ Labor Krone, Filialpraxis für Humangenetik, Bielefeld, Germany.
- Institute for Auditory Neuroscience and InnerEarLab, University Medical Center Göttingen, Göttingen, Germany.
- Cologne Center for Genomics (CCG), Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.
- Core Facility Genomics, Berlin Institute of Health at Charité – Universitätsmedizin Berlin, Berlin, Germany.
- Max Delbrück Center for Molecular Medicine in the Helmholtz Association (MDC), Berlin, Germany.
- Department of Pediatric Hematology and Oncology, Hannover Medical School, Hannover, Germany.
- Institut für Humangenetik, Westfälische Wilhelms-Universität Münster, Münster, Germany.
- CeGaT GmbH, Center for Genomics and Transcriptomics, Tübingen, Germany.
- Laboratory Genetic Metabolic Diseases, Amsterdam Gastroenterology and Metabolism, Amsterdam Neuroscience, Amsterdam UMC, Amsterdam, Netherlands.
- Institute of Diagnostic and Interventional Neuroradiology, Hannover Medical School, Hannover, Germany.
- Center for Molecular Medicine Cologne (CMMC), Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.
- Institute of Human Genetics, Otto-von-Guericke University Magdeburg, Magdeburg, Germany.
- Research Group Structure and Function of Molecular Machines, Max Planck Institute for Multidisciplinary Sciences, Göttingen, Germany.
- Department of Cellular Biochemistry, University Medical Center Göttingen, Göttingen, Germany.
- Cluster of Excellence “Multiscale Bioimaging: From Molecular Machines to Networks of Excitable cells” (MBExC), University of Göttingen, Göttingen, Germany.
- DZHK (German Centre for Cardiovascular Research), Partner Site Göttingen, Göttingen, Germany.