Novel phenotypic and genotypic findings in X-linked retinoschisis.

doi:10.1001/archopht.125.2.259

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Article

Novel phenotypic and genotypic findings in X-linked retinoschisis.

Archives of ophthalmology (Chicago, Ill. : 1960) - 1 Feb 2007

Tsang Stephen H, Vaclavik Veronika, Bird Alan C, Robson Anthony G, Holder Graham E

Abstract excerpt

OBJECTIVE: To describe atypical phenotypes associated with the retinoschisis (X-linked, juvenile) 1 mutation (RS1). METHODS: Seven patients with multiple fine white dots at the macula and reduced visual acuity were evaluated. Six patients underwent pattern and full-field electroretinography (ERG). On-off ERG, optical coherence tomography, and fundus autofluorescence imaging were performed in some patients....

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PMID: 17296904
DOI: 10.1001/archopht.125.2.259
PMCID: PMC2757628

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