Diagnostic and therapeutic challenges of glaucoma in a patient with Phenylketonuria: A case report and review.

Phenylketonuria is a metabolic disorder in which structural retinal alterations have been reported and may interfere with the interpretation of diagnostic tests for glaucoma. We report the case of a 59-year-old woman with phenylketonuria who was under follow-up for suspected glaucoma and presented with an intraocular pressure of 22 mmHg in the right eye and 50 mmHg in the left eye. Optical coherence tomography showed thinning of the retinal nerve fiber layer in the inferior sector, without corresponding visual field defects. Despite maximal medical therapy-adjusted in light of her systemic condition-adequate intraocular pressure control was not achieved, and the patient required phacoemulsification combined with non-penetrating deep sclerectomy. This case underscores the need for an individualized approach to the diagnosis and follow-up of glaucoma in patients with phenylketonuria, as well as heightened caution in therapeutic management.