Leber congenital amaurosis 12

General Information (adopted from Orphanet):

Synonyms, Signs: LCA12
Number of Symptoms 3
OrphanetNr:
OMIM Id: 610612
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
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:0008002) Abnormality of macular pigmentation 20 / 7739
2
 (HPO:0007875) Congenital blindness 9 / 7739
3
 (HPO:0000639) Nystagmus 555 / 7739

Associated genes:

RD3;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Friedman et al. (2006) identified 2 Indian sibs with Leber congenital amaurosis. Both probands had had poor vision since birth. Nystagmus and atrophic lesions in the macular area with pigment migration were found on examination.
Molecular genetics OMIM In 2 sibs with Leber congenital amaurosis, Friedman et al. (2006) detected a donor splice site mutation in the RD3 gene (180040.0001).