Preferred Label : Retinitis pigmentosa;
Symbol : RP;
CISMeF acronym : RP;
Type : Phenotype, molecular basis known;
Description : Retinitis pigmentosa (RP) refers to a heterogeneous group of inherited ocular diseases
that result in a progressive retinal degeneration affecting 1 in 3,000 to 5,000 people
(Veltel et al., 2008). Symptoms include night blindness, the development of tunnel
vision, and slowly progressive decreased central vision starting at approximately
20 years of age. Upon examination, patients have decreased visual acuity, constricted
visual fields, dyschromatopsia (tritanopic; see 190900), and the classic fundus appearance
with dark pigmentary clumps in the midperiphery and perivenous areas ('bone spicules'),
attenuated retinal vessels, cystoid macular edema, fine pigmented vitreous cells,
and waxy optic disc pallor. RP is associated with posterior subcapsular cataracts
in 39 to 72% of patients, high myopia, astigmatism, keratoconus, and mild hearing
loss in 30% of patients (excluding patients with Usher syndrome; see 276900). Fifty
percent of female carriers of X-linked RP have a golden reflex in the posterior pole
(summary by Kaiser et al., 2004). - Juvenile Retinitis Pigmentosa Autosomal recessive
childhood-onset severe retinal dystrophy is a heterogeneous group of disorders affecting
rod and cone photoreceptors simultaneously. The most severe cases are termed Leber
congenital amaurosis (see 204000), whereas the less aggressive forms are usually considered
juvenile retinitis pigmentosa (Gu et al., 1997). Autosomal recessive forms of juvenile
retinitis pigmentosa can be caused by mutation in the SPATA7 (609868), LRAT (604863),
and TULP1 (602280) genes (see LCA3, 604232, LCA14, 613341, and LCA15, 613843, respectively).
An autosomal dominant form of juvenile retinitis pigmentosa (see 604393) is caused
by mutation in the AIPL1 gene (604392).;
Inheritance : Autosomal recessive most frequent, autosomal dominant next, and X-linked recessive
least frequent;
Prefixed ID : #268000;
Origin ID : 268000;
UMLS CUI : C0035334;
Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
- HPO term(s)
- ORDO concept(s)
- Semantic type(s)
- UMLS correspondences (same concept)
