Department of Ophthalmology
Case Studies

Case 10


CC: White pupils

 History

HPI: The pediatrician was alarmed when he finally got a chance to evaluate the 2 hour old newborn and was unable to get the usual red reflex in either eye with the indirect ophthalmoscope. The reflection in both eyes was grayish white. The mother remembers having flu-like symptoms in her early pregnancy but attributed it to being a part of normal pregnancy.

Birth History: 38 week GA, NSVD, no complications

POHx: None

Medications: None

Allergies: None

FHx: No history of eye disease.

SocHx: Will live at home with mother and father. Mother denies smoking, alcohol use or other drug use during pregnancy.

ROS: Negative

 Exam

VA – Reacts to light OU

Pupils- 4mm to 2.5mm OU. No APD.

T palpation- soft OU

Motility- unrestricted OU

Portable Slit Lamp Exam

ODOS
lids/lashesWNLWNL
conjunctiva/sclerawhite & quietwhite & quiet
corneaclearclear
ACdeep & quietdeep & quiet
irisround & reactiveround & reactive
lensdense central opacities OU

DFE: unable to perform due to poor view

 Discussion

Differential Diagnosis:
This is a case of leukocoria, or an abnormal white pupillary reflex, likely due to congenital cataracts. Differential diagnosis of leukocoria includes the following: retinoblastoma, congenital cataracts (from infectious [ex. intrauterine rubella infection] or congenital etiologies [ex. galactosemia and Lowe’s syndrome]), retinopathy of prematurity, persistent hyperplastic primary vitreous, Coat’s disease, familial exudative vitreoretinopathy, retinal detachment, coloboma and corneal opacities.

Definition:
Congenital cataracts can form due to intrauterine infections, metabolic disorders, a malignancy, or a genetic defect. Intrauterine infections that can cause congenital cataracts include rubella (German measles, the most common infectious cause), rubeola, cytomegalovirus, herpes simplex, herpes zoster, poliomyelitis, influenza, Epstein-Barr virus, syphilis, and toxoplasmosis. Metabolic disorders that can cause congenital cataracts include galactosemia and diabetes mellitus. Systemic syndromes such as Lowe’s syndrome (oculocerebrorenal syndrome) or Alport’s syndrome may also be associated with congenital cataracts. The differential of leukocoria, or a white light reflex, must also include retinoblastoma, the most prominent intraocular malignancy in children.

Examination:
A complete medical history including maternal illness or drug use during pregnancy is very important. Family ocular history of congenital blindness, congenital cataracts, strabismus, or amblyopia should also be addressed. A complete eye exam including visual assessment of each eye alone and an attempt to determine the visual significance of the cataract is necessary. B-scan can be helpful to evaluate the posterior eye to rule out posterior abnormalities. A physical examination to determine signs and/or symptoms of systemic intrauterine-acquired infections is essential.

Treatment:
Cataract surgery is the treatment of choice and should be performed as soon as possible to minimize the risk of amblyopia and sensory nystagmus. Cataract extraction with primary posterior capsulectomy and anterior vitrectomy is the procedure of choice due to the high rate of capsular opacification. Most patients are left aphakic and are fitted with a contact lens shortly after surgery. Secondary intraocular lens implantation can be done later in life after the eye has matured. After cataract extraction, patients should be assessed and treated for amblyopia.

 Questions
  1. Describe how to assess the red reflex in children and why is this important.

  2. What is the consequence of untreated congenital cataracts?  What would happen if the cataract is removed earlier than 4yrs? Later than 7yrs?

Contact Us

For questions regarding the cases:

Wanda M. Martinez, MD, PhD Email

Kimberly E. Stepien, MD Email

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