Disease progression in autosomal dominant cone–rod dystrophy caused by a novel mutation (D100G) in the GUCA1A gene

To document longitudinal fundus autofluorescence (FAF) and electroretinogram (ERG) findings in a family with cone–rod dystrophy (CRD) caused by a novel missense mutation (D100G) in the GUCA1A gene. Observational case series. Three family members 26–49 years old underwent complete clinical examinations. In all patients, funduscopic findings showed… CONTINUE READING