helicoid peripapillary chorioretinal degeneration
Helicoid peripapillary chorioretinal degeneration is a rare autosomal dominantly inherited chorioretinal degeneration disease, presenting at birth or infancy, characterized by progressive bilateral retinal and choroidal atrophy, appearing as lesions on the optic nerve and peripheral ocular fundus and leading to central vision loss. Congenital anterior polar cataracts are sometimes associated with this disease.
MONDO:0019118
inherited retinal dystrophy
is_a
SCRA
exact
SVEINSSON chorioretinal atrophy
related
Sveinsson chorioretinal atrophy
exact
atrophia areata
exact