Case Study 9 - CC: White pupils

Patient 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 direct 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.

Past Ocular History:
None

Ocular Medications:
None

Past Medical History:
Birth history: 38 week gestation, normal spontaneous vaginal delivery, no complications

Surgical History:
None

Past Family Ocular History:
No history of eye disease, blindness or congenital cataracts

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

Medications:
None

Allergies:
None

ROS:
Otherwise negative

Ocular Exam

Visual Acuity (cc):
OD: Reacts to light
OS: Reacts to light

IOP (tonoapplantation):
OD: Not tested
OS: Not tested

Pupils:
Equal, round and reactive to light, no APD.

Extraocular Movements:
Full OU. No nystagmus.

Confrontational Visual Fields:
Not performed

External:
Normal, both sides

Slit Lamp:

Dilated Fundus Examination:

Diagnosis
Leukocoria

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, Lowe’s syndrome, familial]), 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 result in 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 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 between 4-8 weeks of age 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. Life-long follow up is important to maximize visual potential.

1. A baby is brought to the pediatrician for her 4 month-old well baby checkup. Which finding would be concerning and merit an ophthalmology referral?
   • baby opens her eyes and lids really wide if the lights are turned down
   • mom reports that in pictures the R pupil looks bright orange with the camera flash but not the L pupil - a check of the pupillary reflex with the direct ophthalmoscope confirms her findings
   • baby pays attention to a toy but looses interest rapidly
   • mom reports some light yellow discharge in the eyes when the baby gets a cold - an exam of the lids shows white discharge in the nasal corner of both eyes
2. What would happen if a cataract is removed later than 7yrs?
   • the cataract would be too dense and increases the risk of complications with surgery
   • the retina will not form a fovea causing permanent decrease in vision
   • visual pathways from the R and L eye will develop differently
   • the eye will have an APD

A baby is brought to the pediatrician for her 4 month-old well baby checkup. Which finding would be concerning and merit an ophthalmology referral?
b. mom reports that in pictures the R pupil looks bright orange with the camera flash but not the L pupil - a check of the pupillary reflex with the direct ophthalmoscope confirms her findings
An abnormal red reflex on direct ophthalmoscopy needs urgent referral to ophthalmology.

What would happen if a cataract is removed later than 7yrs?
c. the R and L occipital lobes will develop differently
Development of visual pathways would be uneven since the input from the cataractous eye is blurrier than the other eye.