Abstract
Purpose: To describe the clinical and genetic characteristics (mutation in RS1 gene) of a Spanish family with X-linked retinoschisis (XLRS) associated with retinitis punctata albescens (RPA). Methods: The detailed ophthalmological examination included best corrected visual acuity (BCVA), colour and autofluorescence photography, fluorescein angiography, optical coherence tomography and electrophysiology tests. A next-generation sequencing (NGS) strategy was applied to the index patient, and then sequenced in an Illumina NextSeq500 system. Candidate variants considered to be disease-causing in the patient were confirmed and segregated in the family by Sanger sequencing. Results: We have studied three siblings of 54, 59 and 50 years old. Two of them presented with macular foveoschisis and a whitish mottling of the pigment epithelium in the peripheral and equatorial retina, while the other had macular atrophy. Electroretinography revealed a reduced b-wave, while a-wave remained unchanged. Mutation in RS1 (c.98G>A; p.Trp33*) was identified as the cause of the disease. Conclusion: XLRS is a genetic disease that leads to irreversible visual loss. We describe an unusual phenotype manifestation of a known mutation.
Highlights
X-linked retinoschisis (XLRS) is a recessive, macular and peripheral retinal dystrophy that may be the result of any number of mutations in the retinoschisin 1 (RS1) gene
202 The Open Ophthalmology Journal, 2021, Volume 15 de Borja Domínguez-Serrano et al XLRS is characterized by foveal retinoschisis, which occurs in nearly 100% of patients, whereas peripheral schisis is present in 50% of patients with XLRS [2]
We found an atypical disease for 2 reasons: the advanced age of presentation, the average is between 18 and 24 years, with wide ranges [5, 6], and the scattered whitish mottling seen in fundoscopy; hyperautofluorescence and hyperfluorescence were similar to that found in Retinitis Punctata Albescens (RPA), a form of atypical Retinitis Pigmentosa (RP)
Summary
X-linked retinoschisis (XLRS) is a recessive, macular and peripheral retinal dystrophy that may be the result of any number of mutations in the retinoschisin 1 (RS1) gene. The RS1 gene encodes for the retinoschisin protein, which is involved in cell adhesion and neural conduction and is secreted primarily by photoreceptors and bipolar cells. The most recent classification divides XLRS into 4 distinct clinical phenotypes: type 1, foveal; type 2, foveolamellar; type 3, complex; and type 4, foveal-peripheral [3]. Clinical diagnosis is not determined in certain cases because of the wide range of phenotypes that may include macular and retinal degeneration and secondary complications such as vitreous hemorrhage and retinal detachment; genetic diagnosis is helpful. The differential diagnosis includes Goldmann-Favre syndrome, Eales disease, retinal periphlebitis, Wagner syndrome, senile retinoschisis, and familial exudative vitreoretinopathy [4]
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