A 6-month-old child was brought by parents for an eye examination. The child was not responding to objects. Parents reported that the child’s eyes showed a whitish discoloration of the cornea since birth.
They had already visited many eye specialists in their home town and neighboring cities. They had been told that not much could be done. The diagnosis was anterior segment dysgenesis. This was their first child and hence they were concerned about the same happening if they were to plan for a next baby. There was history of consanguinity. The child’s parents were first cousins.
Children with anterior segment dysgenesis need a team approach. Corneal opacification can be treated with a keratoplasty (transplantation of the cornea).
On examination the child’s corneas were opacified. There was a very small area of normal transparent cornea in the upper part of both eyes. There was no redness or watering seen, nor was there any discharge. So what is going on?
This ‘white eye’ has many causes. It can be due to infections that are transmitted to the unborn baby from the mother. It may be also caused by certain hereditary conditions that lead to the clear part of the eye turning white. Children born with high pressure inside the eye may also develop ground glass appearance of the cornea which may turn white with time. Birth injuries are a rare cause of corneal opacification. In this case it was a condition called anterior segment dysgenesis.
Anterior segment dysgenesis is a group of disorders in which the front portion of the eyes have not formed normally. They may present with a smaller than normal cornea, opacification of the cornea, abnormalities of the trabecular meshwork (this is the portion of the eye that acts like a sieve through which the fluid inside the eye (not the tears), also known as aqueous humor leaves the eye. Some of these children may also develop glaucoma in which the pressure inside the eye is raised.
What can be done for such a child? Children with anterior segment dysgenesis need a team approach. Corneal opacification can be treated with a keratoplasty (transplantation of the cornea). Children may also need treatment for glaucoma. Children may need genetic testing and the parents counseling.
So if you know of any baby born with white corneas or a child whose cornea has turned white due to any cause, refer them to a pediatric ophthalmologist for a detailed examination.