CRB1Heterozygotes with Regional Retinal Dysfunction: Implications for Genetic Testing of Leber Congenital Amaurosis

1 September 2006

journal article
Published by Association for Research in Vision and Ophthalmology (ARVO) in Investigative Opthalmology & Visual Science

Vol. 47 (9) , 3736-3744
https://doi.org/10.1167/iovs.05-1637

Abstract

Purpose. To test human CRB1 heterozygotes for possible clinical or functional retinal changes and to evaluate whether a patient with Leber congenital amaurosis (LCA) with CRB1 mutations not consistent with previously described CRB1 phenotypes carried a modifier allele in another LCA gene.

Keywords

CRB1
HETEROZYGOTES
AMAUROSIS PURPOSE
MODIFIER ALLELE
GENETIC TESTING
FUNCTIONAL RETINAL
TEST HUMAN
REGIONAL RETINAL

This publication has 0 references indexed in Scilit: