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- W1991495629 abstract "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.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." @default.
- W1991495629 created "2016-06-24" @default.
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- W1991495629 date "2011-10-01" @default.
- W1991495629 modified "2023-09-27" @default.
- W1991495629 title "Retinosquisis ligada al cromosoma X, presentación inusual: estrabismo" @default.
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- W1991495629 doi "https://doi.org/10.1016/j.oftal.2011.03.009" @default.
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