Leber congenital amaurosis 16

General Information (adopted from Orphanet):

Synonyms, Signs: LCA16
Number of Symptoms 10
OrphanetNr:
OMIM Id: 614186
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:0000518) Cataract 454 / 7739
2
(HPO:0000505) Visual impairment 297 / 7739
3
(HPO:0000486) Strabismus rare [HPO:skoehler] 576 / 7739
4
(HPO:0000639) Nystagmus 555 / 7739
5
(HPO:0007663) Reduced visual acuity 100 / 7739
6
(HPO:0000662) Nyctalopia 92 / 7739
7
(OMIM) Poor night vision 1 / 7739
8
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
9
(OMIM) Loss of visual fields 1 / 7739
10
(MedDRA:10038894) Retinal pigmentation 4 / 7739

Associated genes:

KCNJ13;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Sergouniotis et al. (2011) studied a consanguineous Middle Eastern family in which 2 brothers had nystagmus at birth and were diagnosed with Leber congenital amaurosis shortly thereafter. Poor night vision and difficulty reading print from an early age ...
Molecular genetics OMIM In a consanguineous Middle Eastern family with Leber congenital amaurosis mapping to chromosome 2q, Sergouniotis et al. (2011) performed targeted exome sequencing of a 38-Mb target region of chromosome 2q and identified homozygosity for a nonsense mutation in ...