Cataracts, CRYAA Mutations

Background and History: 

Any change in the lens of the eye that reduces its transparency is called a cataract.  Cataracts (lens opacities) are common in all populations and most are related to the physiology of aging.  However, many others are the result of gene changes (mutations).  Many of these are present at birth and often associated with other health problems.  Others resulting from mutations occur without other health problems in which case they are referred to as ‘isolated cataracts’.   The only known impact on health is the effect on vision but many cataracts are too small to cause vision problems in which case no treatment is needed.

Clinical Correlations: 

This category of cataracts is highly heterogeneous, that is, the opacities are variable in size, location, density, and color.  They are usually present in both eyes but there is often considerable asymmetry between the two eyes.  There are usually no other health problems associated with this type of cataract.



This is a group of cataracts caused by mutations in a gene known as CRYAA.  The group probably represents a number of conditions which are usually inherited in an autosomal dominant pattern in most families.  That is, the cataracts are passed directly from one generation to the next as in father or mother to children.  Affected parents can expect that half their children will also have this type of cataract.

Diagnosis and Prognosis: 

An eye doctor is the usual specialist to diagnose cataracts.   A complete eye examination is necessary to rule out other eye diseases and a general medical examination should always be done to determine if other health problems are present.  Cataract surgery is generally only required if vision is impaired sufficiently that one can expect improvement postoperatively.  Life expectancy is not affected in isolated cataracts.

Additional Information
Autosomal dominant