autosomal dominant nuclear cataract

Cataracts, CRYAA Mutations

Clinical Characteristics
Ocular Features: 

This seems to be a clinically heterogeneous group of lens opacities all due to mutations in the crystallin gene CRYAA.  Some patients also have colobomas and may have microcornea and corneal opacities.  The lens opacities are usually bilateral but there is considerable asymmetry in their morphology.  Opacities may be nuclear, polar, cortical, sutural, embryonal, and anterior subcapsular in location.  The cataracts are often present at birth.

Systemic Features: 

Systemic disease is absent.


A variety of mutations in the CRYAA (21q22.3) have been reported in a several ethnic groups.  Most pedigrees are consistent with autosomal dominant inheritance but autosomal recessive inheritance has been suggested in other families.

Autosomal dominant
Autosomal recessive
Treatment Options: 

Lens extraction may be necessary.

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