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retinal macular dystrophy type 2

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Retinal macular dystrophy type 2 is a rare, genetic macular dystrophy disorder characterized by slowly progressive ''bull's eye'' maculopathy associated, in most cases, with mild decrease in visual acuity and central scotomata. Usually, only the central retina is involved, however some cases of more widespread rod and cone anomalies have been reported. Rare additional features include empty sella turcica, impaired olfaction, renal infections, hematuria and recurrent miscarriages.
Uniprot Description A bull's-eye macular dystrophy characterized by bilateral annular atrophy of retinal pigment epithelium at the macula.
Mondo Term and Equivalent IDs
MONDO:0011957:  retinal macular dystrophy type 2
MESH:C562746: 
Orphanet:319640: