Article
Novel mutations in the cellular retinaldehyde-binding protein gene (RLBP1) associated with retinitis punctata albescens: evidence of interfamilial genetic heterogeneity and fundus changes in heterozygotes.
Archives of ophthalmology (Chicago, Ill. : 1960) - 1 Jan 2004
Fishman Gerald A, Roberts Mary Flynn, Derlacki Deborah J, Grimsby Jonna L, Yamamoto Hiroyuki, Sharon Dror, Nishiguchi Koji M, Dryja Thaddeus P
Abstract excerpt
OBJECTIVE: To evaluate the molecular genetic defects associated with retinitis punctata albescens (RPA) in 5 patients from 3 families with this disease. METHODS: We examined 3 probands and 2 clinically affected relatives with RPA. Clinical examinations included best-corrected visual acuity, visual field testing, electroretinography, dilated fundus examination, and fundus photography. Leukocyte DNA was analyzed...
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