Retinoblastoma presenting in a child with Hypomelanosis of Ito

Tarek El-Sawy, Lingmin He, Michael F. Chiang, Kwame Anyane-Yeboa, Kimberly D. Morel, Robert Folberg, Brian P. Marr, David Abramson

Research output: Contribution to journalArticle

6 Scopus citations


Purpose: 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. Methods: A report of a 16-month-old girl with pigmentary mosaicism and unilateral retinoblastoma. Results: 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. Conclusions: Previously unreported presentation of unilateral retinoblastoma in a child with pigmentary mosaicism.

Original languageEnglish (US)
Pages (from-to)55-58
Number of pages4
JournalOpen Ophthalmology Journal
StatePublished - 2011


  • Hypomelanosis of ito
  • Mosaicism
  • Retinoblastoma

ASJC Scopus subject areas

  • Ophthalmology

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    El-Sawy, T., He, L., Chiang, M. F., Anyane-Yeboa, K., Morel, K. D., Folberg, R., Marr, B. P., & Abramson, D. (2011). Retinoblastoma presenting in a child with Hypomelanosis of Ito. Open Ophthalmology Journal, 5, 55-58.