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

Arch Soc Esp Oftalmol (Engl Ed)May 23, 2026 (epub)
Case ReportOphthalmology

I Platas Moreno, P Drake Rodríguez-Casanova, J J Dominguez Cañete

✦ AI-curated · Sources linked

Case in brief

A 59-year-old woman with phenylketonuria presented with suspected glaucoma, showing intraocular pressures of 22 mmHg in the right eye and 50 mmHg in the left. Optical coherence tomography revealed thinning of the retinal nerve fiber layer in the inferior sector, but no visual field defects were noted. Despite maximal medical therapy, intraocular pressure control was inadequate, necessitating phacoemulsification and non-penetrating deep sclerectomy.

Diagnostic / clinical pearl

Clinicians should be aware that phenylketonuria may complicate glaucoma diagnosis and management due to structural retinal changes that can affect test interpretations.

Why it matters

This case highlights the importance of individualized glaucoma management strategies in patients with metabolic disorders like phenylketonuria.

Source

PubMed · PMID 42177984

Published in Arch Soc Esp Oftalmol (Engl Ed). This summary was written by xxcode from the publication's abstract and metadata. It is not peer reviewed and is not a substitute for the original article. For clinical decisions, review the original publication.

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