RPE65-related dominant retinopathy
A retinopathy caused by a heterozygous gain of function variant in the RPE65 gene.
MONDO:0000426
autosomal dominant disease
is_a
MONDO:0019118
inherited retinal dystrophy
is_a
RP87
exact
dominant RPE65 retinopathy
exact
retinitis pigmentosa 87 with choroidal involvement
narrow