The Ophthalmology Research Group 27 is participating in the ISABIAL research sessions to present two topics, which will be delivered by researcher María Teresa Marcos Parra and researcher Gerardo Pedro García García.
María Teresa Marcos Parra will present the topic “Effectiveness and Safety of XEN 63 in Patients with Primary Open‑Angle Glaucoma”.
The researcher presents the Spanish multicenter study in which the Ophthalmology Research Group participated, published on February 23, 2024, on the MIGS XEN 63 drainage system in glaucoma surgery.
Gerardo Pedro García García will address “Clinical and Genetic Characterization of Patients with Hereditary Retinal Dystrophies and Mutations in the PROM1 Gene”.
The researcher will address the PROM1 gene, which encodes an 865‑amino‑acid glycoprotein (prominin‑1) located in the disc membranes of the photoreceptor outer segment, where it plays a structural role, and in the retinal pigment epithelium (RPE), where it acts as a cytosolic mediator of autophagy. Mutations in PROM1 are typically associated with cone‑rod dystrophy, autosomal dominant (AD) retinal macular dystrophy, autosomal recessive (AR) retinitis pigmentosa, and Stargardt disease. The aim of this study is to evaluate the genotype–phenotype correlation in patients with a clinical diagnosis of hereditary macular dystrophy and heterozygous mutations in the PROM1 gene. This study included 12 patients with a clinical diagnosis of hereditary macular dystrophy who carried heterozygous mutations in PROM1. All patients underwent a complete ophthalmological examination and genetic testing using a Next‑Generation Sequencing gene panel. An accurate genotype–phenotype correlation in these patients is essential to establish a correct diagnosis of the underlying pathology and to provide appropriate genetic counseling.