RDH12-related dominant retinopathy
A retinopathy caused by gain of function, heterozygous variants in the RDH12 gene, and associated with late onset retinopathy with a mild phenotype, characterized by nyctalopia and visual field loss, but relatively preserved central vision.
MONDO:0019118
inherited retinal dystrophy
is_a
RDH12-related dominant retinopathy
exact