MedGen

Any retinitis pigmentosa in which the cause of the disease is a mutation in the NRL gene. [from MONDO]

Sveinsson chorioretinal atrophy (SCRA) is characterized by bilateral, well-defined, tongue-shaped strips of atrophic retina and choroid that extend from the optic nerve into the peripheral ocular fundus. The lesions may be evident at birth and usually progress at a variable rate, sometimes leading to central visual loss. Separate small distinct circular atrophic lesions are observed in the peripheral ocular fundus in some patients. Congenital anterior polar cataracts are found in approximately 25% of affected individuals (summary by Jonasson et al., 2007). [from OMIM]

Chorioretinal atrophy concentrated around the optic papilla (i.e., the optic nerve head). [from HPO]