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. [electronic resource]
- Archives of ophthalmology (Chicago, Ill. : 1960) Jan 2004
- 70-5 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.
0003-9950
10.1001/archopht.122.1.70 doi
Adult Carrier Proteins--genetics Child DNA Mutational Analysis Electroretinography Female Fundus Oculi Genetic Heterogeneity Heterozygote Humans Male Middle Aged Mutation Night Blindness--diagnosis Pedigree Retina--physiology Retinaldehyde--genetics Retinitis Pigmentosa--diagnosis Visual Acuity Visual Fields