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Article

Genotypic and phenotypic spectrum of X-linked retinoschisis in Australia.

Clinical & experimental ophthalmology - 1 Jun 2005

Hewitt Alex W, FitzGerald Liesel M, Scotter Lindsey W, Mulhall Lindsay E, McKay James D, Mackey David A

Abstract excerpt

BACKGROUND: X-linked retinoschisis (XLRS), an X-linked recessive inherited degenerative retinopathy, is characterized by splitting in the nerve fibre layer and is caused by alterations in the RS1 gene. The aim of the present study was to review both the phenotypic features of XLRS and the mutation spectrum of the RS1 gene in an Australian cohort. METHODS: Patients were recruited from ophthalmic and paediatric...

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Identifiers

PMID: 15932525
DOI: 10.1111/j.1442-9071.2005.01018.x

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