Cataracts (opacities in the lens of the eye) are caused by many mechanisms. Those present at birth are called congenital and a significant proportion of these are inherited. Mutated genes may cause isolated cataracts but often, as in this condition, other eye abnormalities are present.
This rare condition has been described in only a few families and there is considerable variation in the clinical findings. The findings are usually present at birth or shortly thereafter and there may be significant differences in the two eyes. It is not a progressive condition. The corneas (windshield of the eye) appear cloudy and small in size. In some children glaucoma is present and in such instances the eye appears enlarged and the corneas even more cloudy. The lens of the eye is also cloudy (cataract) but the retina seems to be normal where it can be visualized. Sometimes portions of the iris (the colored part of the eye that forms the pupil) are attached to the back of the cornea. Vision is limited to hand motion in most cases.
There no abnormalities in other parts of the body.
This is an autosomal recessive disorder that occurs in individuals who inherit both copies of a gene mutation. The parents are normal but when they each carry a single copy they have the risk of having a child who inherits both copies and develops this disease.
This condition can only by diagnosed by an ophthalmologist. The vision is usually reduced to the range of only being able to count fingers. Nothing is known about the prognosis or the treatment but it is possible to operate on cataracts and the corneal clouding can be corrected with a corneal transplant. There are no reports of this being done in this condition.