Congenital cataract

Answer 1

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

Cataract - congenital

Causes, incidence, and risk factors

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:

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

Symptoms

• Cloudiness of the lens that looks like a white spot in an otherwise normally dark pupil -- often obvious at birth without special viewing equipment
• 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)

Signs 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 do not affect vision, and these cases require no treatment. Moderate to severe cataracts that affect vision will require cataract removal surgery, 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.

Expectations (prognosis)

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

Complications

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

Calling your health care provider

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.

References

Guercio JR, Martyn LJ. Congenital malformations of the eye and orbit. Otolaryngol Clin North Am. 2007 Feb;40(1):113-40, vii.

Olitsky SE, Hug D, and Smith LP. Abnormalities of the lens. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, eds. Nelson Textbook of Pediatrics. 18th ed. St. Louis, Mo: WB Saunders; 2007; chap 627.

Answer 2

Definition

A congenital cataract is a clouding of the lens of the eye that is present at birth. The lens of the eye is normally clear. It focuses light that comes into the eye onto the retina.

Alternative Names

Cataract - congenital

Causes, incidence, and risk factors

Unlike most cataracts, which occur with age, congenital cataracts are present at birth.

Congenital cataracts are rare. In most patients, no cause can be found.

Congenital cataracts often occur as part of the following birth defects:

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

Symptoms

Congenital cataracts usually look different than other forms of cataract.

Symptoms include:

• Gray or white cloudiness of the pupil (which is normally black)
• Infant doesn't seem to be able to see (if cataracts are in both eyes)
• "Red eye" glow of the pupil is missing in photos, or is different between the two eyes
• Unusual rapid eye movements (nystagmus)

Signs and tests

To diagnose congenital cataract, the infant should have a complete eye examination by an ophthalmologist. The infant may also need to be examined by a pediatrician who is experienced in treating inherited disorders. Blood tests or x-rays may also be needed.

Treatment

If congenital cataracts are mild and do not affect vision, they may not need to be treated, especially if they are in both eyes.

Moderate to severe cataracts that affect vision, or a cataract that is in only one eye will need to be treated with cataract removal surgery. In most (noncongenital) cataract surgeries, an artificial intraocular lens (IOL) is inserted into the eye. The use of IOLs in infants is controversial. Without an IOL, the infant will need to wear a contact lens.

Patching to force the child to use the weaker eye is often needed to prevent amblyopia.

The infant may also need to be treated for the inherited disorder that is causing the cataracts.

Expectations (prognosis)

Removing a congenital cataract is usually a safe, effective procedure. The child will need follow-up for vision rehabilitation. Most infants have some level of "lazy eye" (amblyopia) before the surgery and will need to use patching.

Complications

With cataract surgery there is a very slight risk of:

• Bleeding
• Infection
• Inflammation

Infants who have surgery for congenital cataracts are likely to develop another cataract, which may need further surgery or laser treatment.

Many of the diseases that are associated with congenital cataract can also affect other organs.

Calling your health care provider

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, or if the child seems to have trouble seeing.

Prevention

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

References

Junk AK, Morris DA. Cataracts and systemic disease. In: Tasman W, Jaeger EA, eds. Duane's Ophthalmology. 15th ed. Philadelphia, Pa: Lippincott Williams & Wilkins; 2009:chap 41.

Heitmancik JF, Datilles M. Congenital and inherited cataracts. In: Tasman W, Jaeger EA, eds. Duane's Ophthalmology. 15th ed. Philadelphia, Pa: Lippincott Williams & Wilkins; 2009:chap 74.

Dahan E. Pediatric cataract surgery. In: Yanoff M, Duker JS, eds. Ophthalmology. 3rd ed. St. Louis, Mo: Mosby Elsevier; 2008:chap 5.13.

Reviewed By

Review Date: 09/14/2011

Linda J. Vorvick, MD, Medical Director, MEDEX Northwest Division of Physician Assistant Studies, University of Washington, School of Medicine; and Franklin W. Lusby, MD, Ophthalmologist, Lusby Vision Institute, La Jolla, California. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.