Preferred Label : Retinitis pigmentosa 67;
Symbol : RP67;
CISMeF acronym : RP67;
Type : Phenotype, molecular basis known;
Description : Retinitis pigmentosa (RP) is the name given to a group of hereditary retinal conditions
in which degeneration of rod photoreceptors, responsible for vision under dark conditions,
is more pronounced than that of cone photoreceptors, which mediate daylight vision.
Individuals with RP typically experience night blindness at first, followed by progressive
and unstoppable visual impairment in daytime conditions as well. Their visual fields
become reduced gradually and sight is lost from the midperiphery to the periphery,
then from the midperiphery to the center, resulting eventually in complete or near-complete
blindness if left untreated. Most patients show intraretinal pigment in a bone-spicule
configuration around the fundus periphery as well as retinal arteriolar attenuation,
elevated final dark-adapted thresholds, and reduced and delayed electroretinograms.
Autosomal recessive RP is the most common form of hereditary retinal degeneration
in humans (summary by Nishiguchi et al., 2013). For a discussion of genetic heterogeneity
of retinitis pigmentosa, see 268000.;
Inheritance : Autosomal recessive;
Molecular basis : Caused by mutation in the never-in-mitosis gene A-related kinase-2 gene (NEK2, 604043.0001);
Prefixed ID : #615565;
Origin ID : 615565;
UMLS CUI : C3809954;
Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
- DO Cross reference
- Genes related to phenotype
- HPO term(s)
- ORDO concept(s)
- Semantic type(s)
- UMLS correspondences (same concept)
