Differential Diagnosis of Leukocoria

Abstract

Leukocoria is the most common presenting sign of intraocular retinoblastoma in developed countries [1]. The asymmetric white pupil light reflex may be noted on photographs, in dimly lit environments by the family, or by a general pediatrician at a well-child visit [2]. An abnormal pupil reflex is also frequently observed in several pediatric ocular conditions including cataract (Fig. 2.1), and it is important to clinically differentiate retinoblastoma from simulating diagnoses (Table 2.1). Directed by the available demographic and historical data, a comprehensive clinical and ultrasound examination in the office is usually sufficient to make the correct diagnosis. Occasionally, an examination under anesthesia may be necessary to distinguish retinoblastoma from simulating conditions, such as Coats’s disease, persistent hyperplastic primary vitreous (PHPV), retinal dysplasia, or astrocytic hamartoma. Clinical findings associated with the commonly diagnosed conditions are summarized in the following section (Table 2.2) [3–5].