Cataract - congenital

Definition

A congenital cataract is clouding of the lens of the eye that is present at birth. The lens of the eye is normally a clear structure, which focuses light received by the eye onto the retina.

Alternative Names

Causes

The number of people born with cataracts is low. In most patients, no specific cause can be found. Possible causes of congenital cataracts include the following:

• Galactosemia
• Chondrodysplasia syndrome
• Congenital rubella syndrome
• Down syndrome (trisomy 21)
• Pierre-Robin syndrome
• Familial congenital cataracts
• Hallerman-Streiff syndrome
• Lowe syndrome
• Trisomy 13
• Conradi syndrome
• Ectodermal dysplasia syndrome
• Marinesco-Sjogren syndrome

Symptoms

• Cloudiness of the lens, often obvious at birth without special viewing equipment, and appearing as a whitish discoloration in an otherwise normally dark pupil
• Failure of an infant to show visual awareness of the world around him or her (if cataracts present in both eyes)
• Nystagmus (unusual rapid eye movements)

Exams and Tests

A complete eye examination by an ophthalmologist will readily diagnose congenital cataract. The search for a possible cause may require examination by a pediatrician experienced in hereditary disorders and possible blood tests or x-rays.

Treatment

In some cases, congenital cataracts are mild and not visually significant, and these cases require no treatment. Moderate to severe cataracts that affect vision will require surgical cataract removal, followed by placement of an artificial intraocular lens (IOL). Patching to force the child to use the weaker eye may be required to prevent amblyopia

Treatment for any underlying disorder may also be needed.

Outlook (Prognosis)

Cataract removal surgery with placement of an artificial intraocular lens (IOL) is routine, and usually has excellent results.

Possible Complications

Many of the underlying diseases associated with congenital cataract involve many organs to a great degree.

When to Contact a Medical Professional

Call for an urgent appointment with your baby's health care provider if you notice that the pupil of one or both eyes appears white or cloudy.

Prevention

If you have a family history of inheritable disorders that could cause congenital cataracts, consider seeking genetic counseling.