Retinoblastoma Presenting as Strabismus and Leukocoria
Article Outline
A 22-month-old otherwise healthy girl presented for evaluation of an inturned left eye of 3 months duration. She had been followed approximately every 6 months via red-reflex evaluation by her pediatrician, who noted a dramatic change over a 4-month period. External examination revealed a left esotropia with leukocoria (Figure 1). Ophthalmologic examination revealed a normal right eye and total retinal detachment in a tumor-filled left eye (Figure 2). Magnetic resonance imaging showed a large heterogeneous mass filling the left globe with extension into the left optic nerve head, but no metastases or secondary lesions. Further questioning disclosed that the child’s mother had bilateral retinoblastoma requiring enucleation of both eyes 38 years earlier at 4 months of age.
Figure 1
External examination showing esotropia and leukocoria of the left eye.
Figure 2
Close-up examination showing total retinal detachment in an eye filled with white tumor.
Retinoblastoma is the most common primary intraocular malignancy of childhood. It is caused by a mutation to the retinoblastoma tumor-suppressor gene on the long arm of chromosome 13.1 Affected children often present with strabismus, leukocoria, and amblyopia. Patients with bilateral disease are presumed to have germline mutations and have a 45% chance of having a child with retinoblastoma. Genetic counseling is an important part of the management of patients with retinoblastoma. Treatment varies depending on tumor size, number, and location. Current treatments include laser photocoagulation, thermotherapy, cryotherapy, local or systemic chemotherapy, external-beam radiotherapy, brachytherapy, and enucleation. Historically, treatment for survival involved enucleation, but current treatments have trended toward vision and globe-sparing modalities.2, 3, 4, 5 In developed countries, with prompt recognition and treatment of retinoblastoma, the survival rate approaches 99%, the highest current survival rate of any pediatric cancer.6
Our patient presented with advanced disease requiring enucleation. This case illustrates that any ocular abnormality in a child with a family history of retinoblastoma warrants urgent referral to an ophthalmologist to evaluate for this potentially life-threatening malignancy.
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PII: S0022-3476(10)00678-5
doi:10.1016/j.jpeds.2010.08.010
© 2010 Published by Elsevier Inc.
