Leukocoria is a sign that always warrants further examination. Three of the most common causes of leukocoria—retinoblastoma, congenital cataracts, and Coats disease—require referral to an ophthalmologist.
The life-threatening diagnosis of retinoblastoma must be excluded in every patient with leukocoria. Retinoblastoma typically presents in children younger than 3 years and may be unilateral or bilateral. Patients diagnosed with retinoblastoma often require enucleation, but, with treatment, the survival rate is greater than 95% in the United States.
Congenital cataracts in children are problematic because the visual system is still developing, and depriving one eye of visual input may lead to amblyopia. Any visual deprivation in the first 6 months of life is especially harmful and may result in a more severe form of amblyopia. The etiology of congenital cataracts is varied, but two large studies have found that the majority of congenital cataracts are idiopathic.[2,3]
Coats disease is a rare, congenital ocular disorder that affects the retinal vasculature. Leukocoria occurs secondary to retinal exudates or a serous retinal detachment (Figure 1). Coats disease is typically unilateral and presents within the first decade of life.
Asymmetric refractive error may present as a pseudoleukocoria with the eye with the higher refractive error presenting with a lighter (white) reflex, but this condition also warrants referral to ophthalmology owing to the risk for amblyopia.
Persistent fetal vasculature, also known as "persistent hyperplastic primary vitreous," is a congenital disorder in which the vascular system that supplies the developing eye during gestation fails to regress. The leukocoria results from the presence of the abnormal stalk of the fetal hyaloid system in the vitreous. Persistent fetal vasculature is localized to the eye and typically nonprogressive. Surgical intervention may help minimize complications, but unfortunately visual prognosis is poor.
Obtaining a detailed medical history is critical in patients with leukocoria, because many of the conditions that cause leukocoria are associated with systemic or genetic conditions. Photography may supplement the history and be helpful in establishing leukocoria and determining duration. All patients with new onset of leukocoria should be evaluated urgently by an ophthalmologist, because 18%-62% of these patients will ultimately be diagnosed with retinoblastoma.[4,5]
Concerning diagnoses: Retinoblastoma, congenital cataracts, Coats disease, persistent fetal vasculature
History: Onset, complete medical history with specific focus on prenatal and birth history, family history, and developmental history
Examination: Direct ophthalmoscopy
Management: Urgent referral to ophthalmologist within 1 week
Medscape Ophthalmology © 2019 WebMD, LLC
Any views expressed above are the author's own and do not necessarily reflect the views of WebMD or Medscape.
Cite this: Four Ocular Abnormalities Not to Overlook in Children - Medscape - Jan 17, 2019.