CATARACT 7

General Information (adopted from Orphanet):

Synonyms, Signs: CATARACT 7, CERULEAN TYPE
CATARACT, CONGENITAL, CERULEAN TYPE, 1
CTRCT7
CCA1
Number of Symptoms 2
OrphanetNr:
OMIM Id: 115660
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(OMIM) Mild visual loss 2 / 7739
2
(OMIM) Peripheral bluish and white concentric layered opacities with occasional central lesions arranged radially 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Cerulean cataract, first described by Vogt (1922), is an autosomal dominant, early-onset, bilateral cataract with complete penetrance. Newborns appear asymptomatic until the age of 18 to 24 months, at which time they can be clinically diagnosed by slit-lamp ...
Clinical Description OMIM Kivlin et al. (1985) reported affected members of a large family segregating 'juvenile' cerulean cataract. In a follow-up of this family, Armitage et al. (1995) characterized the cataract as early in onset and progressive. Affected newborns appeared asymptomatic ...