Web Resources

http://www.allaboutvision.com/conditions/congenital-cataracts.htm
http://www.nlm.nih.gov/medlineplus/ency/article/001615.htm

Inheritance

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Cataracts, Congenital Sutural with Punctate and Cerulean Opacities

Background and History

Opacification of the lens in the eye resulting in loss of transparency is called a cataract. Cataracts that appear in infants or childhood are generally called congenital or developmental cataracts. All newborns should have a complete eye examination since early detection and treatment can be important to prevent lazy eye (amblyopia).  Cataracts may arise from a variety of causes including various general developmental syndromes, intrauterine infections such as rubella, chromosomal abnormalities, or inherited disorders of metabolism such as galactosemia. About one-fourth are familial and these are usually caused by single gene mutations.  Inherited forms of cataracts are usually bilateral.

Clinical Correlations

Early onset cataracts that are inherited are often present to some degree at birth but may not be detected until later. These cataracts are often progressive as well so that serial monitoring is required and cataract surgery can be performed at an appropriate time. However, it is common for nearly everyone to have small, visually insignificant opacities in the lenses that do not progress and cause no difficulty in seeing.  In other words, not all cataracts need to be removed.

Cerulean cataracts consist of bluish-white opacities in the lens within otherwise clear areas.  In the disorder described here there are also tiny dot-like opacities along ‘suture lines’ which are areas within all lenses that are formed where otherwise clear fibers meet during development. 

Genetics

This type of congenital cataract is inherited in an autosomal dominant pattern in which affected parents have affected children.  Both sexes are usually affected in equal numbers.  A parent who has this type of cataract can expect that on average half of his or her children will inherit the cataract.

Diagnosis and Prognosis

Cataracts are diagnosed by eye doctors but it is important that pediatricians and family doctors are involved as well to ensure that they are not part of a more generalized disorder. Timely removal of visually significant cataracts in infants and children is essential to ensure that they retain good vision into adult life.