A 1-week-old girl presents for a regular newborn visit with her pediatrician
What is your diagnosis?
The diagnosis is...
The image is consistent with leukocoria (a white pupillary reflex), and is suggestive of congenital cataract.
- Congenital cataract is a lens opacification present at birth.
- Since clouding of the lens can block the red reflex, leading to leukocoria, all newborns are required to have red reflex screening at birth and ideally again at each newborn visit.
- Bilateral cases are most often hereditary from a genetic mutation but can also result from metabolic disease (eg, galactosemia) or prenatal infection (eg, rubella).
- Uncorrected congenital cataract can lead to severe amblyopia.
Differential Diagnosis for Leukocoria:
- Congenital cataract
- Ocular toxocariasis
- Retinopathy of prematurity
- Retinal detachment
- Choroidal coloboma
- Coats disease
- Other retinal tumors (eg, astrocytic hamartoma)
What is the role of the primary care or emergency medicine physician?
These clinicians must refer a patient to an ophthalmologist urgently to differentiate cataracts from other causes of leukocoria including retinoblastoma and retinal detachment.
What is the role of the ophthalmologist?
- Examine the child's eyes externally for alignment and red reflex.
- Examine the eyes internally for lens opacity or other causes of leukocoria (use ultrasonography if there is no view to the back of the eye).
- Inquire about family history to investigate hereditary causes of cataract.
- Work up bilateral cases that do not have a clear hereditary basis or other systemic features by ordering preliminary laboratory tests (eg, fasting blood glucose, plasma calcium, plasma phosphorus, TORCH [Toxoplasma gondii; Other agents, eg, Treponema pallidum; Rubella; Cytomegalovirus; Herpes simplex virus] infection titer levels). A multidisciplinary approach with genetics may be required.
What is the treatment?
- Treatment depends on whether the cataract is severe enough to cause amblyopia. Mild opacifications can be left alone.
- Treatment of significant cataracts typically involves surgical removal of the lens by 3-4 weeks of age.
- Visual rehabilitation through refractive error correction (contact lens) and amblyopia treatment (patching) is important to prevent permanent vision loss.
Learn more: Ophthalmology resources for medical students