Leber congenital amaurosis 11

General Information (adopted from Orphanet):

Synonyms, Signs: LCA11
Number of Symptoms 7
OrphanetNr:
OMIM Id: 613837
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 2 cases - PMID: 16384941 [IBIS]
Inheritance: Autosomal dominant
- PMID: 16384941 [IBIS]
Age of onset: Neonatal, Infancy
- PMID: 20006823 [IBIS]

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 20006823 IBIS 65 / 7739
2
(HPO:0007814) Retinal pigment epithelial mottling 16384941 IBIS 5 / 7739
3
(HPO:0000639) Nystagmus 16384941 IBIS 555 / 7739
4
(HPO:0000505) Visual impairment 16384941 IBIS 297 / 7739
5
(HPO:0000618) Blindness 20006823 IBIS 124 / 7739
6
(HPO:0006829) Severe muscular hypotonia 16384941 IBIS 29 / 7739
7
(HPO:0001263) Global developmental delay 16384941 IBIS 853 / 7739

Associated genes:

IMPDH1;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Leber congenital amaurosis comprises a group of early-onset childhood retinal dystrophies characterized by vision loss, nystagmus, and severe retinal dysfunction. Patients usually present at birth with profound vision loss and pendular nystagmus. Electroretinogram (ERG) responses are usually nonrecordable. Other ...
Clinical Description OMIM Bowne et al. (2006) described 2 unrelated patients with Leber congenital amaurosis. The affected child in 1 family was first seen at 8 months of age when he was diagnosed with LCA and developmental delay with severe hypotonia. He ...
Molecular genetics OMIM In 2 unrelated patients with Leber congenital amaurosis-11, Bowne et al. (2006) identified heterozygous missense mutations in the IMPDH1 gene (146690.0004 and 146690.0005).