Leber congenital amaurosis 3

General Information (adopted from Orphanet):

Synonyms, Signs: LCA3 RETINITIS PIGMENTOSA, JUVENILE, SPATA7-RELATED, INCLUDED
Number of Symptoms 5
OrphanetNr:
OMIM Id: 604232
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: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0001133) Constriction of peripheral visual field 21310915 IBIS 33 / 7739
2
(HPO:0000639) Nystagmus 10/10 [HPO:probinson] 21310915 IBIS 555 / 7739
3
(HPO:0000572) Visual loss 10/10 [HPO:probinson] 21310915 IBIS 272 / 7739
4
(HPO:0000662) Nyctalopia 2/8 [HPO:probinson] 21310915 IBIS 92 / 7739
5
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

SPATA7;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Autosomal recessive childhood-onset severe retinal dystrophy is a heterogeneous group of disorders affecting rod and cone photoreceptors simultaneously. The most severe cases are termed Leber congenital amaurosis, whereas the less aggressive forms are usually considered juvenile retinitis pigmentosa ...
Clinical Description OMIM Stockton et al. (1998) reported a large consanguineous Saudi Arabian kindred segregating Leber congenital amaurosis. In addition to poor visual acuity (typically less than 5/200), affected individuals manifested moderate midfacial hypoplasia with enophthalmos, complex vertical, horizontal, and rotatory ...
Molecular genetics OMIM In 2 unrelated Saudi Arabian families (KKESH-019 and KKESH-060) previously reported by Stockton et al. (1998) and Li et al. (2009), respectively, Wang et al. (2009) sequenced 9 candidate genes and identified a homozygous mutation in the SPATA7 ...