Preferred Label : Retinal cone dystrophy 3b;
Symbol : RCD3B;
CISMeF acronym : RCD3B;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : Cone dystrophy with supernormal rod responses; CDSRR; Cone dystrophy with night blindness and supernormal rod responses, kcnv2-related;
Description : 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).;
Inheritance : Autosomal recessive;
Molecular basis : Caused by mutation in the potassium channel, voltage-gated, subfamily V, member 2
gene (KCNV2, 607604.0001);
Prefixed ID : #610356;
Origin ID : 610356;
UMLS CUI : C1835897;
Automatic exact mappings (from CISMeF team)
- Broader ORDO disease(s)
- Currated CISMeF NLP mapping
- DO Cross reference
- Genes related to phenotype
- HPO term(s)
- ORDO concept(s)
- Semantic type(s)
- UMLS correspondences (same concept)
