Desafíos diagnósticos y terapéuticos del glaucoma en un paciente con fenilcetonuria: caso clínico y revisión

Q3 Medicine

Archivos De La Sociedad Espanola De Oftalmologia Pub Date : 2026-10-01 Epub Date: 2026-05-09 DOI:10.1016/j.oftal.2026.502577

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

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Abstract

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.

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苯丙酮尿症患者青光眼的诊断和治疗挑战：临床病例和复查

苯丙酮尿症是一种代谢性疾病，其中视网膜结构改变已被报道，并可能干扰青光眼诊断试验的解释。我们报告一例59岁女性苯丙酮尿症患者，因疑似青光眼接受随访，右眼眼压为22 mmHg，左眼为50 mmHg。光学相干断层扫描显示下段视网膜神经纤维层变薄，未见相应视野缺损。尽管最大限度的药物治疗-根据她的全身状况进行调整-仍未达到充分的眼压控制，患者需要超声乳化术联合非穿透性深巩膜切除术。本病例强调了对苯丙酮尿患者青光眼的个性化诊断和随访的必要性，以及治疗管理的高度谨慎。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Archivos De La Sociedad Espanola De Oftalmologia Medicine-Ophthalmology

CiteScore

1.20

自引率

0.00%

发文量

109

审稿时长

78 days

期刊介绍： La revista Archivos de la Sociedad Española de Oftalmología, editada mensualmente por la propia Sociedad, tiene como objetivo publicar trabajos de investigación básica y clínica como artículos originales; casos clínicos, innovaciones técnicas y correlaciones clinicopatológicas en forma de comunicaciones cortas; editoriales; revisiones; cartas al editor; comentarios de libros; información de eventos; noticias personales y anuncios comerciales, así como trabajos de temas históricos y motivos inconográficos relacionados con la Oftalmología. El título abreviado es Arch Soc Esp Oftalmol, y debe ser utilizado en bibliografías, notas a pie de página y referencias bibliográficas.