A retinopathy caused by a heterozygous gain of function variant in the RPE65 gene.
Comprehensive, easy-to-understand information about this condition
Checking for content...
No external resources available.
autosomal dominant polycystic liver disease
MONDO:0000447
retinal dystrophies primarily involving Bruch's membrane
MONDO:0001666
tuberous sclerosis
MONDO:0001734
vitreoretinal dystrophy
MONDO:0001923
dystrophies primarily involving the retinal pigment epithelium
MONDO:0001924
retinal dystrophy in systemic or cerebroretinal lipidoses
MONDO:0001925