Differential diagnosis of leukocoria and strabismus, first presenting signs of retinoblastoma

Abstract

Leukocoria in infants is always a danger signal as retinoblastoma, a malignant retinal tumor, is responsible for half of the cases in this age group. More common signs should also be considered suspicious until proved otherwise, such as strabismus, the second most frequent sign of retinoblastoma. Less frequent manifestations are inflammatory conditions resistant to treatment, hypopyon, orbital cellulitis, hyphema or heterochromia. Other causal pathologies, including persistent hyperplastic primary vitreous (PHPV), Coats' disease, ocular toxocariasis or retinopathy of prematurity, may also manifest the same warning signs and require specialized differential diagnosis. Members of the immediate family circle are most likely to notice the first signs, the general practitioner, pediatrician or general ophthalmologist the first to be consulted. On their attitude will depend the final outcome of this vision and life-threatening disease. Early diagnosis is vital.

Keywords: Coats’ disease; leukocoria; persistent hyperplastic primary vitreous (PHPV); retinoblastoma; strabismus.

Figure 1

(a) Left leukocoria in a 1 year-old boy with unilateral retinoblastoma. (b) Exophytic retinoblastoma with total retinal detachment.

Figure 2

(a) Small endophytic unifocal retinoblastoma. (b) Unifocal juxtapapillary lesion involving the macular, with xanthophile pigment visible superiorly. (c) Multifocal retinoblastoma with foci visible beneath the detached retina and superficial vascular anomalies. (d) Multifocal retinoblastoma with calcifications and massive vitreous seeding.

Figure 3

(a) Coats’ disease: right leukocoria in a 2 year-old boy. (b) Coats’ disease: yellowish exudates covering the whole macular area. (c) Coats’ disease: extensive peripheral telangiectatic vessels and partial retinal detachment. (d) Coats’ disease: total bullous retinal detachment posterior to the clear lens and vascular telangiectasias.

Figure 4

(a) Total retinal detachment in a 2 month-old boy. (b) Corresponding ultrasonography showing an intraocular mass with high reflectivity (calcifications) and marked attenuation (shadowing) characteristic for retinoblastoma.