Article
Description of a new mutation in rhodopsin, Pro23Ala, and comparison with electroretinographic and clinical characteristics of the Pro23His mutation.
Archives of ophthalmology (Chicago, Ill. : 1960) - 1 Sept 2000
Oh K T, Weleber R G, Lotery A, Oh D M, Billingslea A M, Stone E M
Abstract excerpt
OBJECTIVES: To report the clinical characteristics of a family with autosomal dominant retinitis pigmentosa caused by a proline-to-alanine mutation at codon 23 (Pro23Ala) of the rhodopsin gene and to compare this phenotype with that associated with the more common proline-to-histidine mutation at codon 23 (Pro23His). METHODS: We examined 6 patients within a single pedigree. The electroretinograms (ERGs) of 35...
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