Aarskog syndrome: a case report and literature review

Aarskog syndrome (facial-digital-genital syndrome) is an X-linked inherited disorder that causes multiple limb and genital abnormalities. Although ophthalmic manifestations are noted rarely, findings may include optic nerve hypoplasia, retinal vessel tortuosity, deficient ocular elevation, hyperopia, and anisometropia.

An 8-year-old boy with Aarskog syndrome presented with complaints of letter reversals, letter additions, and an occasional "crooked" eye when he became frustrated or tired. He was currently enrolled in a special education program because of poor academics. The examination found anisometropic amblyopia, superior ophthalmoplegia, and high hyperopic astigmatism. Glasses were prescribed, and further binocular, accommodative and perceptual testing will be performed once adaptation has occurred.

Knowledge of this rare condition can benefit the practitioner as well as the patient. An understanding of the associated conditions will aid and simplify the examination process. A search of the English-language literature is reported.