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Article

X linked retinoschisis.

1 Jul 1995

Abstract excerpt

X-linked retinoschisis (MIM#312700) is linked to mutations in RS1 encoding retinoschisin a protein critical for cell-cell adhesion and intercellular matrix interactions. It is a rare inherited disorder with a prevalence estimated between 1/5,000 and 1/20,000, affecting male subjects with female carriers being asymptomatic with only few reports of subtle changes. Age of onset can be as early as pre-school...

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Identifiers

PMID: 7662639
DOI: 10.1136/bjo.79.7.697

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