Leber congenital amaurosis 8

General Information (adopted from Orphanet):

Synonyms, Signs: LCA8
Number of Symptoms 7
OrphanetNr:
OMIM Id: 613835
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: AARSKOG SYNDROME, AUTOSOMAL DOMINANT
 -AARSKOG SYNDROME, AUTOSOMAL DOMINANT

Symptom Information: Sort by abundance 

1
(HPO:0000505) Visual impairment 297 / 7739
2
(HPO:0000550) Undetectable electroretinogram 25 / 7739
3
(HPO:0012043) Pendular nystagmus 11 / 7739
4
(HPO:0000518) Cataract 454 / 7739
5
(HPO:0000563) Keratoconus 25 / 7739
6
(HPO:0008499) High-grade hypermetropia 14 / 7739
7
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

CRB1;

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. Other ...
Clinical Description OMIM Abouzeid et al. (2006) reported 4 members of a Middle Eastern family with Leber congenital amaurosis who had high to extreme hyperopia (average spherical refractive errors ranging from +5.00 to +10.00).
Molecular genetics OMIM Lotery et al. (2001) screened the candidate gene CRB1 in 190 patients with Leber congenital amaurosis (LCA8; 613835) who were negative for mutation in 6 known LCA genes and 140 controls, and identified 21 patients and 2 controls who ...