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

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

SUBMITTER: Murro V 

PROVIDER: S-EPMC5324242 | biostudies-literature | 2017 Feb

REPOSITORIES: biostudies-literature