The cataract-microcornea syndrome is the association of
congenital cataract
Congenital cataracts refers to a lens opacity which is present at birth. Congenital cataracts cover a broad spectrum of severity: whereas some lens opacities do not progress and are visually insignificant, others can produce profound visual impa ...
and microcornea.
Genetics
Mutations
In biology, a mutation is an alteration in the nucleic acid sequence of the genome of an organism, virus, or extrachromosomal DNA. Viral genomes contain either DNA or RNA. Mutations result from errors during DNA or viral replication, mitosi ...
in
ABCA3
ATP-binding cassette sub-family A member 3 is a protein that in humans is encoded by the ''ABCA3'' gene.
The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins ...
were found to be associated to this syndrome.
Diagnosis
Treatment
References
External links
Syndromes affecting the eye
{{eye-disease-stub