XEN 63在继发性难治性青光眼到小眼和眼睑下垂的案例

Q3 Medicine

Archivos De La Sociedad Espanola De Oftalmologia Pub Date : 2025-05-01 DOI:10.1016/j.oftal.2024.11.010

S. Labay-Tejado , J. Laguna , M.J. Navarro-Angulo , L. Muñoz , M. Jodar , E. Milla

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引用次数: 0

摘要

小眼症易患青光眼和先天性白内障。MO白内障摘除的特点是有一些并发症，如无晶状体青光眼。我们报告一例33岁男性MO，无晶状体，难治性青光眼，在后路玻璃体切除术后接受鼻间ab-interno XEN 63植入术。通过全外显子组测序（WES）分析，确定了与彼得斯异常（PA）相关的PAX6基因杂合性的可能致病变异C. 197g >A （p.Cys66Tyr）和可能与CC相关的CRYBB3基因杂合性的不明确变异C. 353t >C （p.Leu118Pro）。随访12个月，患者眼压维持在16 - 18 mmHg之间，无药物治疗或并发症。由于XEN 63的多功能性，在某些情况下，它与后玻璃体切除术联合使用可能是一种选择。然而，还需要进一步的调查。基因分析提供了症状前的诊断，并可能导致更个性化的药物。

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XEN 63 en glaucoma refractario secundario a microftalmia y afaquia: a propósito de un caso

Microphthalmia (MO) predisposes to glaucoma and congenital cataracts (CC). Cataract removal in MO is characterized by several complications such as aphakic glaucoma.

We report the case of a 33-year-old male with MO, aphakia, and refractory glaucoma who underwent inferonasal ab-interno XEN 63 implantation, after posterior vitrectomy. Whole Exome Sequencing (WES) analysis was performed identifying the likely pathogenic variant c.197G>A (p.Cys66Tyr) in heterozygosity in the PAX6 gene related to Peters anomaly (PA) and the variant of unclear significance c.353T>C (p.Leu118Pro) in heterozygosity in the CRYBB3 gene, potentially related to CC. Until the 12-month follow-up, the patient maintained intraocular pressure between 16 and 18 mmHg without medication or complications.

XEN 63, when combined with posterior vitrectomy may be an option in select cases, owing to its versatility. However, further investigation is required. Genetic analysis provides a pre-symptomatic diagnosis and may lead to a more personalised medicine.

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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.