Ocular findings in a patient with Prader-Willi syndrome.

摘要

A 25-year-old woman is described whose clinical features included infantile hypotonia, obesity after infancy, intellectual impairment, dysmorphic facial features, short stature, small hands and feet, and abnormal dentition, which are typical of the Prader-Willi syndrome. The patient had almond-shaped eyes, spot-like hypopigmentation under the retina, and a polychromatic luster in the anterior and posterior subcapsular regions of both lenses. Using fluorescence fundus angiography, we identified choroid-transmitted fluorescence in the areas of spot-like hypopigmentation. Recordings of both electroretinogram and visual evoked potential were normal. Ophthalmologists should be aware of the characteristic features of Prader-Willi syndrome because some of the ocular disorders associated with this syndrome can be treated.