Four Ocular Abnormalities Not to Overlook in Children

Brianne N. Hobbs, OD


January 17, 2019

In This Article


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.[1]

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.

Figure 1. A fundus photo of Coats disease. Extensive retinal exudates are present in the macula and along the arcades. It is the presence of these yellowish exudates that causes leukocoria. Image courtesy of Matthew Roe, OD.

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]

Key Factors

  • 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


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