R E V I E W Differential diagnosis of leukocoria and strabismus, ﬁrst presenting signs of retinoblastoma Aubin Balmer Francis Munier Jules Gonin University Eye Hospital, Lausanne, Switzerland Correspondence:Aubin Balmer Privat-Docent, Maître d’enseignement et de Recherche, Hôpital Ophtalmique Jules Gonin, 15,Avenue de France, 1004 Lausanne, Switzerland Tel +41 27 323 22 12 Fax +41 27 323 22 18 Email aubin.balmer@bluewin.ch 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 special- ized 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: leukocoria, strabismus, retinoblastoma, Coats’ disease, persistent hyperplastic primary vitreous (PHPV) Introduction Retinoblastoma represents the greatest challenge in the ﬁeld of ophthalmology. Affecting very young infants, in most cases perfectly healthy in all other respects, this highly malignant cancer of the retina threatens those individuals with the longest potential lifespan. Survivors may be severely handicapped by lesions of the posterior pole affecting central visual function. These children can be cured, however, at low cost and with minimal suffering, provided that treatment is given in the early stages of disease. At later stages treatment is costly, burdensome, and with no certain outcome. Retinoblastoma is fortunately a rare disease, but other intraocular lesions may mimic the initial signs or clinical features and are sometimes called “pseudo-retinoblastomas” (Dollfus and Auvert 1953). Retinoblastoma does, however, represent 80% of primary ocular tumors in children under 15 years of age (Mahoney et al 1990) 17% of all neonatal cancers (Halperin 2000) and 1% of all deaths due to cancer (Miller 1969). All ages considered, it is the third most frequent cancer of the eye and ocular adnexa (20%) and represents 3% of all pediatric cancers (Scat et al 1996). Thus the importance of keeping in mind the possibility of retinoblastoma when confronted with suspicious signs such as a white pupil or leukocoria (Figure1a), the most common ﬁrst manifestation, strabismus or any other unexplained signs. In this article, other conditions to take into consideration in the differential diagnosis of leukocoria or other signs associated with retinoblastoma will be reviewed. Clinical Ophthalmology 2007:1(4) 431–439 © 2007 Dove Medical Press Limited. All rights reserved 431