Klinefelter Syndrome (49, XXXXY/48, XXXY) associated with narrow angle glaucoma: A case report

Previous studies have described Klinefelter syndrome as a genetic disorder characterized by at least one extra X chromosome and at least 47 chromosomes. It is the most common sex chromosome aneuploidy among men. Patients may present with large height, gynecomastia, low testosterone levels, infertility, hypogonadism and diseases usually more common in females such as osteoporosis, breast cancer and auto-immune disorders. Other rare ophthalmic associations have been described, such as diffuse choroidal atrophy, microphtalmia, cataracts, juvenile glaucoma, choroid colobomas and goniodysgenesis.

To report on the ocular findings in a Puerto Rican patient with Klinefelter syndrome (XXXXY/XXXY). PATIENTS AND METHODS: A patient with Klinefelter syndrome with revious history of elevated intraocular pressure underwent a comprehensive ocular examination, Humphrey visual fields and Stratus optical coherence tomography (OCT) tests. Patient had inreased intraocular pressure, visual field loss and OCT findings compatible with glaucoma. After laser YAG laser iridotomies, high IOP persisted. Brimonidine 0.2 % drops three times a day drops were prescribed to lower IOP.

A patient with Klinefelter syndrome had poor visual acuity, high intraocular pressure, visual fields and OCT results, all compatible with angle closure glaucoma as part of the syndrome.