Retinosquisis ligada al cromosoma X, presentación inusualestrabismo
- A.B. Areizaga Osés
- R. Martínez Fernández
- M. Galdos Iztueta
- N. Muruzabal Zaldíbar
ISSN: 0365-6691
Year of publication: 2011
Volume: 86
Issue: 10
Pages: 327-330
Type: Article
More publications in: Archivos de la Sociedad Española de Oftalmologia
Sustainable development goals
Abstract
Case report: X linked retinoschisis is a recessively inherited degenerative retinopathy. We report two cases that debuted with an unusual presentation (strabismus) in early childhood (months). Both of them presented with vitreous veils in the retinal periphery. Mutation in the XLRS1 gene was detected in both cases. Discussion: X linked retinoschisis is one of the leading causes of macular degeneration in male children. Clinical features include a stellate foveal schisis, with or without peripheral retinoschisis. Clinical diagnosis is often difficult because of a high degree of phenotype variability. Furthermore, ERG and OCT may be normal in early stages of the disease. In our opinion, the XLRS1 gene mutation screening provides a powerful clinical tool for evaluating clinically ambiguous cases of X linked retinoschisis.
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