Leber congenital amaurosis 6

General Information (adopted from Orphanet):

Synonyms, Signs: LCA6
Number of Symptoms 9
OrphanetNr:
OMIM Id: 613826
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:0012043) Pendular nystagmus 11 / 7739
2
(HPO:0000550) Undetectable electroretinogram 25 / 7739
3
(HPO:0000518) Cataract 454 / 7739
4
(HPO:0008499) High-grade hypermetropia 14 / 7739
5
(HPO:0007843) Attenuation of retinal blood vessels 25 / 7739
6
(HPO:0000613) Photophobia 158 / 7739
7
(HPO:0001141) Severe visual impairment 11 / 7739
8
(HPO:0000563) Keratoconus 25 / 7739
9
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

RPGRIP1;

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 Dryja et al. (2001) reported 3 patients with Leber congenital amaurosis. All experienced severe loss of central acuity, leading to nystagmus early in life, and had a degeneration of both rod and cone photoreceptors. One patient had nystagmus ...
Molecular genetics OMIM Dryja et al. (2001) surveyed 57 unrelated patients who had Leber congenital amaurosis for mutations in RPGRIP1 and found recessive mutations involving both alleles in 3 (6%) patients. All 4 mutations (605446.0001-605446.0004) created premature termination codons and were ...