Retinoblastoma presenting in a child with hypomelanosis of Ito.
OBJECTIVE
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.
Department of Ophthalmology, Columbia University Medical Center, New York, NY, USA.
Tarek
T
El-Sawy
Lingmin
L
He
Michael F
MF
Chiang
Kwame
K
Anyane-Yeboa
Kimberly D
KD
Morel
Robert
R
Folberg
Brian P
BP
Marr
David
D
Abramson