Tarek El-Sawy

Publication Details

  • Retinoblastoma presenting in a child with hypomelanosis of Ito. The open ophthalmology journal El-Sawy, T., He, L., Chiang, M. F., Anyane-Yeboa, K., Morel, K. D., Folberg, R., Marr, B. P., Abramson, D. 2011; 5: 55-58


    To describe a case of a child with a known history of pigmentary mosaicism suggestive of Hypomelanosis of Ito presenting with unilateral leukocoria, who was ultimately diagnosed with retinoblastoma.A report of a 16-month-old girl with pigmentary mosaicism and unilateral retinoblastoma.A previously healthy 16-month-old girl with a diagnosis of a mosaic hypopigmentation at the age of 6 months based on a linear and whorled pattern of skin hypopigmentation along the lines of Blaschko, presented with unilateral strabismus, leukocoria, retinal detachment, and sub-retinal exudation. Hypomelanosis of Ito and other similar neurocutaneous syndromes are known to be associated with abnormal retinal pigmentation, vascular abnormalities, and retinal detachment. Examination included a fluorescein angiogram, ultrasonography, and an MRI of the brain and orbits that demonstrated features consistent with retinoblastoma. Given these findings and a flat electroretinogram, the eye was enucleated with final pathologic confirmation of retinoblastoma.Previously unreported presentation of unilateral retinoblastoma in a child with pigmentary mosaicism.

    View details for DOI 10.2174/1874364101105010055

    View details for PubMedID 22216075

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