Abstract
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.
Highlights
Given these findings and a flat electroretinogram, the eye was enucleated with final pathologic confirmation of retinoblastoma
A 16-month-old girl presented with the concern for a “glassy” right eye that had recently been noted to deviate outward
The impression was pigmentary mosaicism or Hypomelanosis of Ito (HI) and she was referred to a pediatric geneticist and ophthalmologist
Summary
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
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