Journal article

Genotypic and phenotypic spectrum of X-linked retinoschisis in Australia

AW Hewitt, LM FitzGerald, LW Scotter, LE Mulhall, JD Mckay, DA Mackey

CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY | WILEY | Published : 2005

Abstract

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 hospitals as well as private ophthalmic clinics across Australia. A cohort of 18 presumably unrelated families was identified. Twenty-two affected patients underwent clinical examination. Following DNA extraction all six exons of the RS1 gene were sequenced. RESULTS: The median age at d..

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