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, *
Article Information
Identifiers and Pagination:
Year: 2021Volume: 15
First Page: 201
Last Page: 205
Publisher ID: TOOPHTJ-15-201
DOI: 10.2174/1874364102115010201
Article History:
Received Date: 25/1/2021Revision Received Date: 16/6/2021
Acceptance Date: 15/7/2021
Electronic publication date: 05/10/2021
Collection year: 2021
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.
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.