Variation of clinical expression in patients with Stargardt dystrophy and sequence variations in the ABCRGene

GA Fishman, EM Stone, S Grover… - Archives of …, 1999 - jamanetwork.com
Objective To report the spectrum of ophthalmic findings in patients with Stargardt dystrophy
or fundus flavimaculatus who have a specific sequence variation in theABCRgene. Patients
Twenty-nine patients with Stargardt dystrophy or fundus flavimaculatus from different
pedigrees were identified with possible disease-causing sequence variations in
theABCRgene from a group of 66 patients who were screened for sequence variations in
this gene. Methods Patients underwent a routine ocular examination, including slitlamp …