Retinoblastoma differential diagnosis

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1],Associate Editor(s)-in-Chief: Jyostna Chouturi, M.B.B.S [2]

Overview

Retinoblastoma must be differentiated from other diseases that cause leucokoria, strabismus, vision problems, eye pain such as cataract, and retinopathy of prematurity.

Differential diagnosis

1. Persistent hyperplastic primary vitreous (PHPV): congenital developmental anomaly of the eye resulting from failure of the embryological, primary vitreous and hyaloid vasculature to regress, whereby the eye is shorter, develops a cataract, and may present with whitening of the pupil.

2. Coats disease: a typically unilateral disease characterised by abnormal development of blood vessels behind the retina, leading to blood vessel abnormalities in the retina and retinal detachment to mimic retinoblastoma.

3. Toxocara canis: an infectious disease of the eye associated with exposure to infected puppies, which causes a retinal lesion leading to retinal detachment.

4. Retinopathy of prematurity (ROP): associated with low birth weight infants who receive supplemental oxygen in the period immediately after birth, it involves damage to the retinal tissue and may lead to retinal detachment.

If the eye examination is abnormal, further testing may include imaging studies, such as computerized tomography (CT), magnetic resonance imaging (MRI), and ultrasound.