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June 2013

Mutation of GNAQ in a Cytologically Unusual Choroidal Melanoma in an 18-Month-Old Child

Author Affiliations

Author Affiliations: Departments of Ophthalmology and Visual Sciences (Drs Levasseur, Paton, and White), Medical Genetics (Dr Van Raamsdonk), Radiology (Dr Heran), and Pathology and Laboratory Medicine (Dr White), University of British Columbia, Vancouver, British Columbia, Canada.

JAMA Ophthalmol. 2013;131(6):810-812. doi:10.1001/jamaophthalmol.2013.2483

Fewer than 1% of uveal melanomas (UMs) occur in patients younger than 20 years.1 We report a histologically unusual UM in a child that was confirmed by the presence of a GNAQ somatic mutation.

An 18-month-old girl was referred to an ophthalmic oncologist after being diagnosed as having leukokoria of the right eye. Her mother felt that the eye was “lazy” from birth. At 6 months, a nurse noticed an abnormal red reflex. The child was first seen by an ophthalmologist 12 months later when it was noticed that the affected pupil was dilated. Magnetic resonance imaging showed a uniformly enhancing right intraocular mass (Figure 1A-C). Examination under anesthesia revealed a total retinal detachment with a yellow subretinal mass. A preliminary diagnosis of retinoblastoma was made and enucleation was performed. The left eye was normal.

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