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late-onset retinal degeneration

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description Late-onset retinal degeneration is an inherited retinal dystrophy characterized by delayed dark adaptation and nyctalopia and drusen deposits presenting in adulthood, followed by cone and rod degeneration that presents in the sixth decade of life, which leads to central vision loss. Anterior segment features such as peripupillary iris transillumination defects and abnormally long anterior zonular insertions are also observed. Choroidal neovascularization and glaucoma may occur in the late stages of the disease.
Uniprot Description Autosomal dominant disorder characterized by onset in the fifth to sixth decade with night blindness and punctate yellow-white deposits in the retinal fundus, progressing to severe central and peripheral degeneration, with choroidal neovascularization and chorioretinal atrophy.
Mondo Term and Equivalent IDs
MONDO:0011579:  late-onset retinal degeneration
GARD:0004357: 
MESH:C565309: 
Orphanet:67042: 
SCTID:719431007: 
UMLS:C1854065: