Should XYY syndrome be considered in the differential diagnosis of syndromic myopia? Apropos of a case.

Abstract

Introduction and objectives: XYY syndrome is relatively common and misdiagnosed. In addition high myopia appears to be more frequent in this syndrome than in the general population. Therefore, the objective of the present report is to emphasize the association of XYY syndrome and high myopia.

Materials and methods: Case report of a single patient.

Results: An 8-year-old male patient with a history of XYY syndrome was examined. Physical examination revealed tall stature, low-set auricular pavilion implantation, mid-face hypoplasia, horizontal palpebral fissures. Ophthalmological evaluation showed early-onset high myopia in both eyes and a complete nuclear cataract and chronic retinal detachment in the right eye.

Discussion: Patients with XYY syndrome appear to exhibit a high prevalence of myopia. Although the pathophysiology of myopia in patients with XYY syndrome is not yet fully understood, it should be considered as a differential diagnosis for syndromic myopia.