RETINITIS PIGMENTOSA 41

General Information (adopted from Orphanet):

Synonyms, Signs: RETINAL DEGENERATION, AUTOSOMAL RECESSIVE, PROMININ-RELATED
RP41
Number of Symptoms 8
OrphanetNr:
OMIM Id: 612095
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:0000550) Undetectable electroretinogram 25 / 7739
2
(HPO:0000608) Macular degeneration 36 / 7739
3
(HPO:0000510) Rod-cone dystrophy 266 / 7739
4
(HPO:0000662) Nyctalopia 92 / 7739
5
(OMIM) Loss of peripheral vision 2 / 7739
6
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
7
(OMIM) Extinguished electroretinograms in second or third decade 1 / 7739
8
(OMIM) Bone-spicule pigment deposits, retinal 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Maw et al. (2000) reported a consanguineous Indian family in which 4 of 8 sibs had night blindness and loss of peripheral vision from childhood with progression to profound visual impairment and extinguished electroretinograms (ERG) by their third ...
Molecular genetics OMIM In affected members of a consanguineous Indian family with retinal degeneration, Maw et al. (2000) identified homozygosity for a 1-bp deletion in the PROM1 gene (604365.0001), predicted to cause truncation of the protein. The mutation was not found ...