RETINITIS PIGMENTOSA 2

General Information (adopted from Orphanet):

Synonyms, Signs: RP2
Number of Symptoms 10
OrphanetNr:
OMIM Id: 312600
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0200065) Chorioretinal degeneration 7 / 7739
2
(HPO:0001133) Constriction of peripheral visual field 33 / 7739
3
(HPO:0000510) Rod-cone dystrophy 266 / 7739
4
(HPO:0000662) Nyctalopia 92 / 7739
5
(HPO:0000580) Pigmentary retinopathy 49 / 7739
6
(HPO:0000545) Myopia 286 / 7739
7
(HPO:0000518) Cataract 454 / 7739
8
(HPO:0001417) X-linked inheritance 173 / 7739
9
(OMIM) Early myopia 1 / 7739
10
(OMIM) Gyrate choroidal atrophy 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Retinitis pigmentosa is characterized by constriction of the visual fields, night blindness, and fundus changes, including 'bone corpuscle' lumps of pigment. RP unassociated with other abnormalities is inherited most frequently (84%) as an autosomal recessive, next as an ...
Clinical Description OMIM The X-linked form of retinitis pigmentosa is also called choroidoretinal degeneration, or pigmentary retinopathy. The gyrate choroidal atrophy described by Waardenburg (1932) as X-linked was found on further study to be retinitis pigmentosa (Waardenburg et al., 1961). As ...
Molecular genetics OMIM In 6 patients with X-linked retinitis pigmentosa, Schwahn et al. (1998) detected 6 different mutations in a novel gene (RP2; 300757).

In a cohort of North American families with X-linked retinitis pigmentosa, Mears et al. (1999) ...