CASE REPORT


X-linked Retinoschisis Associated with Retinitis Punctata Albescens Caused by a Mutation in the RS1 Gene: A Family Study



Francisco de Borja Domínguez-Serrano1, Marina Soto-Sierra1, María González-del Pozo2, 3, María José Morillo-Sánchez1, *, Manuel Ramos-Jiménez4, Mireia López-Domínguez1, Beatriz Ponte-Zuñiga1, 5, Guillermo Antiñolo-Gil2, 3, Enrique Rodríguez de la Rúa-Franch1, 5, *
1 Department of Ophthalmology, University Hospital Virgen Macarena, Seville, Spain
2 Department of Maternal-fetal Medicine, Genetics and Reproduction, Institute of Biomedicine of Seville, University Hospital Virgen del Rocío/CSIC/University of Seville, Seville, Spain
3 Rare Diseases Networking Biomedical Research Center (CIBERER), Seville, Spain
4 Department of Clinical Neurophysiology, University Hospital Vírgen Macarena, Seville
5 RETICS Oftared, Carlos III Institute of Health, Madrid, Spain


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Creative Commons License
© 2020 de Borja Domínguez-Serrano et al.

open-access license: This is an open access article distributed under the terms of the Creative Commons Attribution 4.0 International Public License (CC-BY 4.0), a copy of which is available at: (https://creativecommons.org/licenses/by/4.0/legalcode). This license permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.


* Contributed equally to this work* Address correspondence to this author at the Department of Ophthalmology, University Hospital Virgen Macarena, Avda Doctor Fedriani, 3, 41071, Sevilla, Spain; Tel: +34955008000; E-mail: marina.soto.sierra@gmail.com


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.

Keywords: X-linked retinoschisis, RS1, Retinitis punctata albescens, Inherited retinal disease, Gene, Mutation.