RETINITIS PIGMENTOSA 27

General Information (adopted from Orphanet):

Synonyms, Signs: RP27
Number of Symptoms 20
OrphanetNr:
OMIM Id: 613750
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0007787) Posterior subcapsular cataract 20 / 7739
2
(HPO:0000510) Rod-cone dystrophy 266 / 7739
3
(HPO:0000533) Chorioretinal atrophy 24 / 7739
4
(HPO:0000505) Visual impairment 297 / 7739
5
(HPO:0007950) Peripapillary chorioretinal atrophy 3 / 7739
6
(HPO:0000550) Undetectable electroretinogram 25 / 7739
7
(HPO:0000662) Nyctalopia 92 / 7739
8
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
9
(OMIM) Nondetectable electroretinogram, all components, in older individuals 1 / 7739
10
(OMIM) Nondetectable scotopic electroretinogram with relative preservation of photopic and pattern elements in younger patients 1 / 7739
11
(OMIM) Night blindness, with onset in first and second decades of life 1 / 7739
12
(OMIM) Pigmentation in retinal periphery 1 / 7739
13
(OMIM) Peripapillary chorioretinal atrophy, progressive 1 / 7739
14
(HPO:0040049) Macular edema rare [HPO:skoehler] 5 / 7739
15
(OMIM) Macular edema 6 / 7739
16
(OMIM) Photopic visual field defects, asymptomatic, demonstrated by static perimetry in second decade of life 1 / 7739
17
(OMIM) Decreased visual acuity in fourth decade of life 1 / 7739
18
(OMIM) Optic disc pallor in fourth decade of life 1 / 7739
19
(OMIM) Macular atrophy, bull's eye pattern, in fourth decade of life 1 / 7739
20
(OMIM) Loss of peripheral vision in third and fourth decades of life 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Bessant et al. (1999) identified a large 3-generation British family (RP251) segregating autosomal dominant retinitis pigmentosa and excluded previously identified autosomal dominant loci. Bessant et al. (1999) identified a heterozygous mutation in the NRL gene in affected members ...
Molecular genetics OMIM In a 3-generation British family with autosomal dominant retinitis pigmentosa, Bessant et al. (1999) identified a heterozygous missense mutation in the NRL gene (S50T; 162080.0001). Bessant et al. (2000) identified the S50T mutation in 3 additional families and ...