Pigmentary glaucoma in a patient with 48, XXYY syndrome: a case report

Abstract

Abstract Objective We report a case of a patient with 48, XXYY genetic syndrome suffering from a pigmentary glaucoma. Background The 48, XXYY syndrome is a very rare sporadic genetic condition with a variety of clinical signs and symptoms. Similarly to Klinefelter syndrome, the principal symptom is the hypergonadotrophic hypogonadism leading to infertility. Several other common features of this syndrome including developmental delay, behavioural difficulties and facial dysmorphism are described. Nevertheless, the association between Klinefelter syndrome and ocular manifestations are rare or at least, not clearly described in medical literature. Case presentation: A 37-year-old patient with karyotype 48, XXYY, presented with a known history of pigment dispersion syndrome. Both slight lamp exam and gonioscopy revealed signs of pigmentary glaucoma. The aspect of the optic nerve in the fundus and both OCT exam and visual fields showed an agonic glaucoma on one eye and a severe glaucoma on the other eye. Conclusions Ocular manifestations in 48, XXYY syndrome or more generally in sex chromosomal aneuploidies are rarely described in medical literature. In this article, we report a case of pigmentary glaucoma in a patient with 48, XXYY syndrome.