Open AccessClinical Findings in a Multigeneration Family With Autosomal Dominant Central Areolar Choroidal Dystrophy Associated With an Arg195Leu Mutation in the Peripherin/RDS Gene
Author(s) -
Claudia N. Keilhauer
Publication year - 2006
Publication title -
archives of ophthalmology
Language(s) - English
Resource type - Journals
eISSN - 1538-3601
pISSN - 0003-9950
DOI - 10.1001/archopht.124.7.1020
Subject(s) - peripherin , fundus (uterus) , electroretinography , medicine , ophthalmology , family history , gene mutation , genetics , mutation , biology , retinal , gene
To characterize clinical findings associated with a mutation in codon 195 (Arg195Leu) of the peripherin/RDS gene in a large multigeneration family of European decent.
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