Cataract-microcornea Syndrome
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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
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