Pigmentary glaucoma in a patient with 48,XXYY syndrome

We report the case of a patient with 48,XXYY genetic syndrome and pigmentary glaucoma.

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 hypergonadotrophic hypogonadism, leading to infertility. Several other common features of this syndrome, including developmental delay, behavioral difficulties and facial dysmorphism, have been described. Nevertheless, associations between 48,XXYY syndrome and ocular manifestations are rare or at least not clearly described in the medical literature.

A 37-year-old patient with karyotype 48,XXYY presented with a known history of pigment dispersion syndrome. Both slit lamp examination and gonioscopy revealed signs of pigmentary glaucoma. The appearance of the optic nerve on both fundus examination and OCT and the visual fields showed end-stage glaucoma in one eye and severe glaucoma in the fellow eye.

Ocular manifestations in 48,XXYY syndrome, or more generally in sex chromosomal aneuploidies, are rarely described in the medical literature. In this article, we report a case of pigmentary glaucoma in a patient with 48,XXYY syndrome.