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retinal cone dystrophy 3A

Disease Summary
Associated Targets (1)
Tclin

1


GARD Rare
Uniprot Description A rare form of cone dystrophy associated with supernormal rod responses. The disorder is characterized by reduced visual acuity, photoaversion, night blindness, and abnormal color vision. At an early age, the retina shows subtle depigmentation at the macula and, later, more obvious areas of atrophy.
Mondo Term and Equivalent IDs
MONDO:0012398:  retinal cone dystrophy 3A
GARD:0010648: 
MESH:C566483: 
UMLS:C1864900: