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Sorsby's fundus dystrophy

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description Sorsby's fundus dystrophy is a rare progressive autosomal dominant macular dystrophy, presenting between the third and sixth decades of life, characterized by retinal atrophy and retinal detachment and leading to loss of central vision, then peripheral vision, and eventually blindness.
Uniprot Description Rare autosomal dominant macular disorder with an age of onset in the fourth decade. It is characterized by loss of central vision from subretinal neovascularization and atrophy of the ocular tissues. Generally, macular disciform degeneration develops in the patients eye within 6 months to 6 years.
Mondo Term and Equivalent IDs
MONDO:0007640:  Sorsby's fundus dystrophy
GARD:0010511: 
MESH:C564992: 
Orphanet:59181: 
SCTID:193410003: