RETINITIS PIGMENTOSA 3

General Information (adopted from Orphanet):

Synonyms, Signs: RETINITIS PIGMENTOSA 15
CHOROIDORETINAL DEGENERATION WITH RETINAL REFLEX IN HETEROZYGOUS WOMEN
CONE-ROD DEGENERATION, X-LINKED
RP3
RP15
Number of Symptoms 3
OrphanetNr:
OMIM Id: 300029
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000548) Cone/cone-rod dystrophy 47 / 7739
2
(HPO:0000510) Rod-cone dystrophy 266 / 7739
3
(HPO:0001417) X-linked inheritance 173 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) X-linked retinitis pigmentosa (XLRP) is a severe form of inherited retinal degeneration that primarily affects the rod photoreceptors (Demirci et al., 2002). It typically causes an early-onset night blindness and loss of peripheral vision, often causing patients to ...
Clinical Description OMIM Falls and Cotterman (1948) described an X-linked form of choroidoretinal degeneration which is distinguished from other types by the presence in heterozygous women of a tapetal-like retinal reflex (a brilliant, scintillating, golden-hued, patchy appearance most striking around the ...
Molecular genetics OMIM Meindl et al. (1996) provided evidence that loss-of-function mutations within the RPGR gene (312610) are responsible for RP3 by identifying 2 small intragenic deletions and 2 nonsense and 3 missense mutations in highly conserved residues in unrelated patients ...
Population genetics OMIM Buraczynska et al. (1997) stated that RP3 is the most frequent genetic subtype of X-linked retinitis pigmentosa.

Vervoort et al. (2000) found RPGR mutations in 72% of XLRP patients, of which 20% were in exons 1 ...