Leber congenital amaurosis 1

General Information (adopted from Orphanet):

Synonyms, Signs: AMAUROSIS CONGENITA OF LEBER I
RETINAL BLINDNESS, CONGENITAL
CRB
LCA
LCA1
Number of Symptoms 20
OrphanetNr:
OMIM Id: 204000
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:0003296) Hyperthreoninuria 2 / 7739
2
(HPO:0000618) Blindness 124 / 7739
3
(HPO:0007663) Reduced visual acuity 100 / 7739
4
(HPO:0000639) Nystagmus 555 / 7739
5
(HPO:0000654) Decreased light- and dark-adapted electroretinogram amplitude 17 / 7739
6
(HPO:0000580) Pigmentary retinopathy 49 / 7739
7
(HPO:0000563) Keratoconus 25 / 7739
8
(HPO:0001099) Fundus atrophy 3 / 7739
9
(HPO:0000518) Cataract 454 / 7739
10
(HPO:0000613) Photophobia 158 / 7739
11
(HPO:0008625) Severe sensorineural hearing impairment 150 / 7739
12
(HPO:0000407) Sensorineural hearing impairment 524 / 7739
13
(HPO:0008527) Congenital sensorineural hearing impairment 165 / 7739
14
(HPO:0001249) Intellectual disability 1089 / 7739
15
(HPO:0001483) Eye poking 2 / 7739
16
(HPO:0002240) Hepatomegaly 467 / 7739
17
(HPO:0001510) Growth delay 295 / 7739
18
(HPO:0003354) Hyperthreoninemia 3 / 7739
19
(OMIM) Central vision loss 2 / 7739
20
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

GUCY2D;

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 Leber (1869), pronounced LAY-ber (see also 535000 and 204100), described this condition as pigmentary retinopathy with congenital amaurosis. Leber (1871) recognized the familial nature of the condition and the role of consanguinity.

Alstrom (1957) found that ...

Genotype-Phenotype Correlations OMIM Cremers et al. (2002) reviewed the molecular genetics of Leber congenital amaurosis, including the structures and roles of the 6 known gene products.

Hanein et al. (2004) reported a comprehensive mutation analysis of all known LCA-related ...

Molecular genetics OMIM Because the clinical presentation of Leber congenital amaurosis in humans is similar to the phenotype of the rd mouse, in which a nonsense mutation in the beta subunit of the cGMP phosphodiesterase gene (Pdeb) has been defined as ...
Population genetics OMIM Leber congenital amaurosis is estimated to affect 1 in 81,000 to 1 in 30,000 live births, although it may be more common in communities that are relatively genetically isolated or in countries with common consanguineous pairings. LCA accounts ...