XEN 63 in a case of refractory glaucoma secondary to microphthalmia and aphakia.

Abstract

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