Retinoblastoma is the most common primary intraocular malignancy in childhood, with 90% of cases diagnosed in patients younger than 5 years. A positive family history is present in 5% of children who develop this disease, so it is important to examine all newborns of parents with retinoblastoma.

From a genetic standpoint three forms may be considered: familial, sporadic heritable, and non-heritable. All non-heritable retinoblastomas are unilateral, and the vast majority with familial or sporadic heritable retinoblastoma can develop bilateral disease. Early diagnosis and treatment is important for preventing metastasis.

The children may present leukocoria, strabismus, intraocular inflammation, and decreased vision. Early fundus finding is a translucent, gray to white, globular mass with dilated and tortuous retinal vessels. As the tumor grows, foci of calcification develop. Tumours may grow toward the vitreous causing vitreous seeding, or toward the choroid causing retinal detachment, or diffusely infiltrating within the retina.

Several treatments are used for management of retinoblastoma, including enucleation, cryotherapy, braquitherapy, systemic and intraarterial chemotherapy, laser, and radiotherapy.

Differential Diagnosis:

• Congenital cataract
• Vitreous hemorrhage
• Exudative retinal detachment
• Retinopathy of prematurity
• Tuberculosis
• Anterior uveitis, childhood