Leber congenital amaurosis 13

General Information (adopted from Orphanet):

Synonyms, Signs: RP53, INCLUDED
LCA13 RETINITIS PIGMENTOSA 53, INCLUDED
Number of Symptoms 7
OrphanetNr:
OMIM Id: 612712
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

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

Symptom Information: Sort by abundance 

1
(HPO:0000556) Retinal dystrophy 65 / 7739
2
(OMIM) Attenuation of retinal arterioles 3 / 7739
3
(OMIM) Legal blindness in early adulthood (in some patients) 1 / 7739
4
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
5
(OMIM) Intraretinal bone spicule pigmentation 1 / 7739
6
(OMIM) Preservation of central vision into later adulthood (in some patients) 1 / 7739
7
(OMIM) Retinal dystrophy (rods and cones affected), early onset 1 / 7739

Associated genes:

RDH12;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Janecke et al. (2004) reported 3 consanguineous Austrian kindreds segregating Leber congenital amaurosis. Affected individuals in these families, as well as 2 Austrian individuals with sporadic LCA and 3 non-Austrian individuals with LCA, carried mutations in the RDH12 gene ...
Molecular genetics OMIM In all affected family members studied from 3 kindreds with LCA13, as well as in 2 Austrian individuals with sporadic LCA13, Janecke et al. (2004) identified homozygosity for a tyr226-to-cys mutation in the RDH12 gene (Y226C; 608830.0001). Janecke et ...