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GTR Home > Conditions/Phenotypes > Cone dystrophy with supernormal rod response

Cone dystrophy with supernormal rod response

Synonyms
CONE DYSTROPHY WITH SUPERNORMAL ROD RESPONSES; Retinal cone dystrophy 3B
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Cone dystrophy with supernormal rod responses (CDSRR) is characterized by onset in the first or second decade of life of very marked photophobia, myopia, reduced color vision along the red-green axis with relatively preserved tritan discrimination, and central scotomata with peripheral widespread sensitivity loss predominating in the superior visual field. Nyctalopia is a later feature of the disorder. There is often retinal pigment epithelium disturbance at the macula with a normal retinal periphery. Autofluorescence (AF) imaging shows either a perifoveal ring or a central macular area of relative increased AF (summary by Michaelides et al., 2005). [from OMIM]

Available tests

27 tests are in the database for this condition.

Clinical tests (27 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: KV11.1, Kv8.2, RCD3B, KCNV2
    Summary: potassium voltage-gated channel modifier subfamily V member 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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