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अमूर्त

The Emerging Ophthalmic Phenotype of XXYY Syndrome

Tazeen Ashraf, Ahmed Shalaby, Catherine Mercer, Kate Bolton and James Self

48 XXYY is a sex chromosome tetrasomy condition which causes tall stature, hypergonadotrophic hypogonadism, facial dysmorphism, developmental delay and behavioural difficulties.

Over 100 cases have been published in the literature but there is little information on the ophthalmological findings in these patients. Previously reported ophthalmic findings have included Duane anomaly, high myopia and retinal dysfunction. We report a case of 48, XXYY syndrome in a child who presented with developmental delay. He was referred to Ophthalmology with a squint and on detailed examination was found to be hyperopic; with an unusual pigmented fundal appearance he had a normal electroretinogram and normal visual evoked potentials.