Retinitis pigmentosa 10

General Information (adopted from Orphanet):

Synonyms, Signs: RP10
Number of Symptoms 19
OrphanetNr:
OMIM Id: 180105
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 7 cases - PMID: 16384941; 26720483; 24940031 [IBIS]
Inheritance: Autosomal dominant
- PMID: 16384941 [IBIS]
Age of onset: Childhood
- PMID: 16384941 [IBIS]

Disease classification (adopted from Orphanet):

Parent Diseases: AARSKOG SYNDROME, AUTOSOMAL DOMINANT
 -AARSKOG SYNDROME, AUTOSOMAL DOMINANT

Symptom Information: Sort by abundance 

1
(HPO:0001150) Choroidal sclerosis 16384941 IBIS 5 / 7739
2
(HPO:0000543) Optic disc pallor 16384941 IBIS 67 / 7739
3
(HPO:0011504) Bull's eye maculopathy 16384941; 26720483 IBIS 8 / 7739
4
(HPO:0011509) Macular hyperpigmentation 26720483 IBIS 2 / 7739
5
(HPO:0000608) Macular degeneration 24940031 IBIS 36 / 7739
6
(HPO:0007843) Attenuation of retinal blood vessels 24940031 IBIS 25 / 7739
7
(HPO:0007737) Bone spicule pigmentation of the retina 16384941; 26720483; 24940031 IBIS 26 / 7739
8
(HPO:0001105) Retinal atrophy 24940031 IBIS 10 / 7739
9
(HPO:0000510) Rod-cone dystrophy 16384941; 26720483; 24940031 IBIS 266 / 7739
10
(HPO:0001487) Hypopigmented fundi 26720483 IBIS 4 / 7739
11
(HPO:0000551) Abnormality of color vision 26720483 IBIS 20 / 7739
12
(HPO:0000662) Nyctalopia 16384941; 26720483 IBIS 92 / 7739
13
(HPO:0001123) Visual field defect 24940031 IBIS 30 / 7739
14
(HPO:0001133) Constriction of peripheral visual field 16384941 IBIS 33 / 7739
15
(HPO:0007981) Concentric narrowing of visual fields 16384941 IBIS 2 / 7739
16
(HPO:0007994) Peripheral visual field loss 26720483 IBIS 13 / 7739
17
(HPO:0000618) Blindness 16384941 IBIS 124 / 7739
18
(HPO:0000572) Visual loss 16384941 IBIS 272 / 7739
19
(HPO:0008008) Progressive central visual loss 26720483 IBIS 1 / 7739

Associated genes:

IMPDH1;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Molecular genetics OMIM By linkage mapping, Bowne et al. (2002) identified 2 American families with the RP10 form of adRP and used these families to reduce the linkage interval to 3.45 Mb between the flanking markers D7S686 and RP-STR8. Ten retinal transcripts ...