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cone dystrophy with supernormal rod response

Disease Summary
Associated Targets (1)
Tclin

1


GARD Rare
Mondo Description Cone dystrophy with supernormal rod response (CDSRR) is an inherited retinopathy, with an onset in the first or second decade of life, characterized by poor visual acuity (due to central scotoma), photophobia, severe dyschromatopsia, and occasionally, nystagmus. Night blindness usually develops later in the course of the disease, but it can also be apparent from childhood. A hallmark of CDSRR is the decreased and delayed dark-adapted response to dim flashes in electroretinographic recordings, which contrasts with the supernormal b-wave response at the highest levels of stimulation.
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:0012475:  cone dystrophy with supernormal rod response
GARD:0010649: 
MESH:C563678: 
Orphanet:209932: 
SCTID:719455002: 
UMLS:C1835897: 
UMLS:C4304714: