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cataract-microcornea syndrome
Genetics:
- autosomal dominant (most cases)
- associated wth defects in CRYBB1
Clinical manifestations:
- association of congenital cataract & microcornea without any other systemic anomaly or dysmorphism
- corneal diameter inferior to 10 mm in both meridians in an otherwise normal eye
- cataract
- most often bilateral posterior polar with opacification in the lens periphery
- cataract progresses to form a total cataract after visual maturity has been achieved
- cataract surgery required in the first to third decade of life
- can be associated with other rare ocular manifestations, including
- myopia
- iris coloboma
- sclerocornea
- Peters anomaly
General
genetic syndrome (multisystem disorder)
genetic disease of the eye
Database Correlations
OMIM 116150
References
OMIM :accession 116150