Leber congenital amaurosis 2

General Information (adopted from Orphanet):

Synonyms, Signs: AMAUROSIS CONGENITA OF LEBER II
LCA2
Number of Symptoms 12
OrphanetNr:
OMIM Id: 204100
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:0001099) Fundus atrophy 3 / 7739
3
(HPO:0000618) Blindness 124 / 7739
4
(HPO:0000580) Pigmentary retinopathy 49 / 7739
5
(HPO:0000654) Decreased light- and dark-adapted electroretinogram amplitude 17 / 7739
6
(HPO:0000613) Photophobia 158 / 7739
7
(HPO:0000563) Keratoconus 25 / 7739
8
(HPO:0007663) Reduced visual acuity 100 / 7739
9
(HPO:0001249) Intellectual disability 1089 / 7739
10
(HPO:0001483) Eye poking 2 / 7739
11
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
12
(HPO:0001320) Cerebellar vermis hypoplasia 57 / 7739

Associated genes:

RPE65;

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. ...
Clinical Description OMIM Waardenburg and Schappert-Kimmijser (1963) published a pedigree that showed all normal children from 2 affected parents with Leber congenital amaurosis (LCA). The mother had 2 affected sisters and the father was the product of a first-cousin marriage. Keratoconus ...
Molecular genetics OMIM The existence of at least 2 genetically distinct forms of Leber congenital amaurosis was established by the demonstration of Marlhens et al. (1997) that the disorder can be caused not only by mutations in the gene for retinal ...