Eye Disorders Case

A 3-month-old infant girl was urgently added to your scheduled clinic appointments.

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Her mother became concerned when looking at family photos from a few weeks ago. She noticed that the light reflex appeared significantly duller in her daughter’s eyes than in the rest of the family. On further inspection, you confirm that the red reflex is diminished bilaterally. In addition, when viewing the patient’s eyes with direct ophthalmoscopy you note some cloudiness to her pupils. The mother states that her daughter is otherwise healthy and has received all appropriate vaccinations. The remainder of her examination is normal.

All the following are associated with the patient’s condition EXCEPT:

A. Positive family history.

B. Down syndrome.

C. Galactosemia.

D. Trauma.

E. Intrauterine infection.

The correct answer is “D.” The patient’s clinical picture is consistent with bilateral congenital cataracts. Congenital cataracts are relatively common, occurring in about 1 in 2000 live births. Although trauma may be associated with a unilateral pediatric cataract, it is not a cause of bilateral congenital cataracts. Other disorders associated with bilateral congenital cataracts include congenital TORCH (toxoplasmosis, other [syphilis, varicella-zoster, parvovirus B19], rubella, cytomegalovirus, and herpes) infections, maternal drug ingestion, trisomies 13, 18, and 21, Lowe syndrome, Alport syndrome, and aniridia. Inherited cataracts, which are usually transmitted in an autosomal dominant fashion, are the most common cause of bilateral congenital cataracts in the United States. Other family members, therefore, are also often affected but to varying degrees. Steroid use, radiation exposure, hypoparathyroidism, diabetes mellitus, and Fabry disease are potential causes of bilateral pediatric cataracts. 


Question & Explanation: Peterson AR, Wood KE. Pediatrics Examination and Board Review. New York, NY: McGraw-Hill Education; 2017.

Photo: Lueder GT. Pediatric Practice: Ophthalmology; 2011

Leah Carton

Associate Editor - Pediatrics, Dermatology, Geriatrics , McGraw Hill