Central Areolar Choroidal Dystrophy

A 56-year-old male that presents as a follow up for Dry Age-Related Macular Degeneration and complaining of nyctalopia. VA 20/20 both eyes on initial presentation. DFE revealed hypopigmented areas in the macula of both eyes. Fluoresencin angiogrpahy revealed speckled hyperfluoresence areas around the macula. Pt was followed every 3-6 months and VA remained stable for years. Eventually, VA began to decline in left eye with worsening macular atrophy on imaging. Genetic testing revealed PRPH2 mutation, which is associated with multiple different retinal diseases. Given genotype and phenotype, we fill that most likely diagnosis is Central Areolar Choroidal Dystrophy. 

Presentation Date: 03/05/2020

Issue Date: 08/01/2020