Retinoblastoma Presenting in a Child with Hypomelanosis of Ito

Tarek El-Sawy*, 1, §, Lingmin He 2, Michael F Chiang 1, , Kwame Anyane-Yeboa 3, Kimberly D Morel 3, 4, Robert Folberg 5, Brian P Marr 6, David Abramson 6
1 Department of Ophthalmology, Columbia University Medical Center, New York, NY, USA
2 Stanford University School of Medicine, Stanford, CA, USA
3 Department of Pediatrics, Columbia University Medical Center, New York, NY, USA
4 Department of Dermatology, Columbia University Medical Center, New York, NY, USA
5 Oakland University William Beaumont School of Medicine, Rochester, MI, USA
6 Ophthalmic Oncology Service, Department of Surgery, Memorial Sloan-Kettering Cancer Center, New York, NY, USA

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© El-Sawy et al.; Licensee Bentham Open.

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* Address correspondence to this author at the Memorial Sloan-Kettering Cancer Center, 1233 York Avenue, Rm 311, New York, NY 10065, USA; Tel: 212-639-7232; Fax: 212-734-2553; E-mail:
§ Current Address: Department of Head & Neck Surgery, MD Anderson Cancer Center, 1515 Holcombe Blvd, Unit 1445, Houston, Texas 77030, USA
Current Address: Departments of Ophthalmology & Medical Informatics and Clinical Epidemiology, Oregon Health & Science University, Portland, OR 97239, USA



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.

Keywords: Hypomelanosis of ito, mosaicism, retinoblastoma.