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BMC Ophthalmology
Published in: BMC Ophthalmology 1/2017

Open Access 01-12-2017 | Case report

Case report of an atypical early onset X-linked retinoschisis in monozygotic twins

Authors: Vittoria Murro, Roberto Caputo, Giacomo Maria Bacci, Andrea Sodi, Dario Pasquale Mucciolo, Sara Bargiacchi, Sabrina Rita Giglio, Gianni Virgili, Stanislao Rizzo

Published in: BMC Ophthalmology | Issue 1/2017

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Abstract

Background

X-linked Retinoschisis (XLRS) is one of the most common macular degenerations in young males, with a worldwide prevalence ranging from 1:5000 to 1:20000. Clinical diagnosis of XLRS can be challenging due to the highly variable phenotypic presentation and limited correlation has been identified between mutation type and disease severity or progression.

Case presentation

We report the atypical early onset of XLRS in 3-month-old monozygotic twins. Fundus examination was characterized by severe bullous retinal schisis with pre-retinal and intraretinal haemorrhages. Molecular genetic analysis of the RS1 was performed and the c.288G > A (p. Trp96Ter) mutation was detected in both patients.

Conclusions

Early onset XLRS is associated with a more progressive form of the disease, characterized by large bullous peripheral schisis involving the posterior pole, vascular abnormalities and haemorrhages. The availability of specific technology permitted detailed imaging of the clinical picture of unusual cases of XLRS. The possible relevance of modifying genes should be taken into consideration for the future development of XLRS gene therapy.
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Metadata
Title
Case report of an atypical early onset X-linked retinoschisis in monozygotic twins
Authors
Vittoria Murro
Roberto Caputo
Giacomo Maria Bacci
Andrea Sodi
Dario Pasquale Mucciolo
Sara Bargiacchi
Sabrina Rita Giglio
Gianni Virgili
Stanislao Rizzo
Publication date
01-12-2017
Publisher
BioMed Central
Published in
BMC Ophthalmology / Issue 1/2017
Electronic ISSN: 1471-2415
DOI
https://doi.org/10.1186/s12886-017-0406-6

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