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Congenital Cataracts

Unlike most cataracts that develop with age, congenital cataracts are present at birth or in the first few years after it. It is estimated that there are almost two million blind children in the world, most in developing countries, and congenital cataracts are one of the most common causes of this. In the poorest countries, rates of congenital cataracts are between five and fifteen per 10,000 births. In industrialized countries the rates are between one and six per 10,000, which is considered rare.

In many cases a direct reason for congenital cataracts cannot be found, yet there are also several known causes. It is thought that ten to twenty-five percent of congenital cataracts are due to genetic causes. Over ninety percent of the protein component of the lenses is made of three different types of proteins called, logically enough, crystallins. Various genetic mistakes in one or more of these lens proteins have been found in many cases of congenital cataracts. There can also be defects in proteins called connexins that help the cells of the lens adhere to one another.

Infections within the uterus occurring in the mother during pregnancy are suspected of causing some number of cataracts seen at birth. These include rubella (German measles), toxoplasmosis, cytomegalovirus (CMV), varicella (chickenpox), herpes simplex and syphilis. Congenital cataracts can also be associated with a number of other types of birth defects and conditions. These include: Down Syndrome, or trisomy 21; Wilson's Disease, the accumulation of excess copper; Myotonic Dystrophy, abnormal muscle ‘tightness'; Galactosemia, an excess of the sugar galactose, a breakdown product of the milk sugar, lactose; Trisomy 13, containing a gene implicated in Wilson's disease; and a few other rare conditions. Of course many of these conditions have effects on other organs in addition to the eyes.

Besides a visible cloudiness to one or both lenses, there may also be a condition of uncontrolled rapid eye movement called nystagmus. If a child has a cataract in only one eye, or if one eye has a more advanced cataract than the other, they are likely to develop amblyopia – the brain using one eye preferably to the other. In this case, a patch can be worn over the preferred eye, to retrain the brain to use both eyes. Very mild forms of congenital cataracts can be left untreated until clear signs of progression are seen. In that case, surgery to remove the cataract(s) is necessary. In adults, the cloudy lens will be replaced with an artificial one, called an intraocular lens (IOL), but the use of these in infants is controversial. They are often given a special type of contact lens and remain vulnerable to certain visual complications. Yet, with treatments at each stage, cataracts in general have become a manageable condition.

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