RETINITIS PIGMENTOSA 38

General Information (adopted from Orphanet):

Synonyms, Signs: ROD-CONE DYSTROPHY, CHILDHOOD-ONSET
RP38
Number of Symptoms 21
OrphanetNr:
OMIM Id: 613862
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:0000543) Optic disc pallor 67 / 7739
2
(HPO:0200070) Peripheral retinal atrophy 2 / 7739
3
(HPO:0000529) Progressive visual loss 54 / 7739
4
(HPO:0000662) Nyctalopia 92 / 7739
5
(HPO:0001133) Constriction of peripheral visual field 33 / 7739
6
(HPO:0000510) Rod-cone dystrophy 266 / 7739
7
(HPO:0007401) Macular atrophy 14 / 7739
8
(OMIM) Hyperreflective bodies below the outer limiting membrane on OCT 1 / 7739
9
(OMIM) Photoreceptor layer thinned on optical coherence tomography (OCT) 1 / 7739
10
(OMIM) Wrinkled appearance of inner retina (in some patients) 1 / 7739
11
(OMIM) Electroretinographic responses reduced or nonrecordable 1 / 7739
12
(OMIM) Color vision deficits (in some patients) 1 / 7739
13
(OMIM) Bone-spicule pigment depositions (in some patients) 1 / 7739
14
(OMIM) Pigment mottling in mid-periphery (in some patients) 1 / 7739
15
(OMIM) High reflectivity of fundus (in some patients) 1 / 7739
16
(OMIM) Attenuation of retinal vessels 5 / 7739
17
(OMIM) Macular atrophy 5 / 7739
18
(OMIM) Intraretinal pigment deposition extending to posterior pole (in some patients) 1 / 7739
19
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
20
(OMIM) Autofluorescent dots in posterior pole 1 / 7739
21
(OMIM) Bull's-eye macular retinal pigment epithelium changes 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Retinitis pigmentosa (RP) describes a group of disorders with progressive degeneration of rod and cone photoreceptors in a rod-cone pattern of dysfunction. RP has a prevalence of 1 in 3,500, and is genetically and phenotypically heterogeneous (summary by ...
Clinical Description OMIM Gal et al. (2000) described 3 individuals with degenerative retinal disease who carried mutation in the MERTK gene (RP38). The first 2 patients were a 45-year-old man and a 34-year-old woman who both had onset of night blindness ...
Molecular genetics OMIM In 2 patients with retinitis pigmentosa, Gal et al. (2000) identified homozygous mutations in the MERTK gene. The first patient, with a 5-bp deletion (604705.0001), came from a consanguineous family. The second patient, carrying a splice site mutation ...