Cataracts, Congenital, Autosomal Recessive 5

Clinical Characteristics
Ocular Features: 

This type of autosomal recessive congenital cataract has been identified in a single consanguineous family.  The lens opacities (not further characterized) are the only ocular abnormalities found in two boys and 1 girl belonging to a single sibship born to parent who were second cousins.  Extensive systemic evaluations found no evidence of clinical disease as found in Sengers syndrome (212350).

Systemic Features: 

There are no systemic abnormalities.


This type of cataract results from homozygous mutations in AGK (7q33-q36.1), a lipid metabolism gene.  Sengers syndrome (212350) is also caused by mutations in the same gene.

Autosomal recessive
Treatment Options: 

Cataract surgery may be indicated if the opacities are visually significant..

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