F Nasser1, S Kohl2, L Kuehlewein2, B Wissinger2, C D Obermaier3, A Kurtenbach2, E Zrenner2,4. 1. Institute for Ophthalmic Research, Centre for Ophthalmology, Eberhard Karls University, Elfriede-Aulhorn Strasse 7, 72076, Tübingen, Germany. fadi.nasser@med.uni-tuebingen.de. 2. Institute for Ophthalmic Research, Centre for Ophthalmology, Eberhard Karls University, Elfriede-Aulhorn Strasse 7, 72076, Tübingen, Germany. 3. CeGaT GmbH, Tuebingen, Germany. 4. Werner Reichardt Center for Integrative Neuroscience, Eberhard Karls University, Tuebingen, Germany.
Abstract
PURPOSE: Mutations in the RS1 gene are known to cause retinoschisis, an X-linked hereditary retinal degeneration. Here, we present a case of atypical retinoschisis with clinical findings of retinoschisis and retinitis pigmentosa. METHODS: This report is an observational case report. The detailed ophthalmological examinations included visual field determination, multimodal imaging and electrophysiological recordings. Targeted next-generation sequencing of a retinal disease gene panel was performed. RESULTS: The 55-year-old male, highly hyperopic patient, presented with a best-corrected Snellen visual acuity of 20/100 in the right eye and 20/400 in the left eye. In the kinetic visual field, there was a superior scotoma, as well as a ring scotoma in the inferior hemisphere in the right eye and a concentric visual field constriction to 10° in the left eye. Funduscopy revealed marked pigmentary changes (i.e. bone spicules) in the mid-periphery bilaterally and symmetrically, as well as two small intra-retinal haemorrhages in the left eye. Full-field electroretinography recordings showed extinguished rod and cone responses. Diagnostic-genetic testing revealed a hemizygous missense mutation in the RS1 gene (c.305G > A; p.Arg102Gln) was identified. CONCLUSION: We present a case of atypical retinoschisis with clinical findings of retinitis pigmentosa.
PURPOSE: Mutations in the RS1 gene are known to cause retinoschisis, an X-linked hereditary retinal degeneration. Here, we present a case of atypical retinoschisis with clinical findings of retinoschisis and retinitis pigmentosa. METHODS: This report is an observational case report. The detailed ophthalmological examinations included visual field determination, multimodal imaging and electrophysiological recordings. Targeted next-generation sequencing of a retinal disease gene panel was performed. RESULTS: The 55-year-old male, highly hyperopic patient, presented with a best-corrected Snellen visual acuity of 20/100 in the right eye and 20/400 in the left eye. In the kinetic visual field, there was a superior scotoma, as well as a ring scotoma in the inferior hemisphere in the right eye and a concentric visual field constriction to 10° in the left eye. Funduscopy revealed marked pigmentary changes (i.e. bone spicules) in the mid-periphery bilaterally and symmetrically, as well as two small intra-retinal haemorrhages in the left eye. Full-field electroretinography recordings showed extinguished rod and cone responses. Diagnostic-genetic testing revealed a hemizygous missense mutation in the RS1 gene (c.305G > A; p.Arg102Gln) was identified. CONCLUSION: We present a case of atypical retinoschisis with clinical findings of retinitis pigmentosa.
Authors: Nicole Weisschuh; Anja K Mayer; Tim M Strom; Susanne Kohl; Nicola Glöckle; Max Schubach; Sten Andreasson; Antje Bernd; David G Birch; Christian P Hamel; John R Heckenlively; Samuel G Jacobson; Christina Kamme; Ulrich Kellner; Erdmute Kunstmann; Pietro Maffei; Charlotte M Reiff; Klaus Rohrschneider; Thomas Rosenberg; Günther Rudolph; Rita Vámos; Balázs Varsányi; Richard G Weleber; Bernd Wissinger Journal: PLoS One Date: 2016-01-14 Impact factor: 3.240