A novel GUCY2D mutation, V933A, causes central areolar choroidal dystrophy
Investigative Ophthalmology & Visual Science, 06/14/2012
Hughes AE et al. – Mutations in GUCY2D have previously been associated with dominant cone rod dystrophies (CORD6) and recessive forms of Leber's congenital amaurosis. This is the first report of GUCY2D mutation causing central areolar choroidal dystrophy and adds to the understanding of genotype–phenotype correlation in this heterogeneous group of choroidoretinal dystrophies.