Three potential geographic atrophy subgroups identified
Researchers identified three potential subgroups for geographic atrophy based on genotype and specific fundus features, which could lead to better approaches to treating the disease, according to a speaker at the virtual Association for Research in Vision and Ophthalmology meeting.
“If these results are confirmed, the one-size-treats-all approach for treatment of geographic atrophy may be inappropriate, and clinical trials should consider therapeutic approaches and selection criteria that target particular disease subgroups,” Marc Biarnés-Perez, MPH, PhD, said.
Biarnés-Perez and colleagues included 186 eyes of 186 patients with pure geographic atrophy from the EYE-RISK database. Patients were graded using color fundus photography for the presence of reticular pseudodrusen, large soft drusen, location of atrophy, refractive drusen, hyperpigmentation and multifocal lesions. Genetic risk scores were calculated for the complement, lipid metabolism and extracellular matrix pathways. The ARMS2 polymorphism was also included in the analysis, Biarnés-Perez said.
Hierarchical cluster analyses identified three potential subgroups for geographic atrophy, he said. Subgroup 1 was characterized by large soft drusen of 125 µm or greater, foveal atrophy coupled with high genetic risk scores for the complement and lipid metabolism pathways. Subgroup 2 was characterized by low genetic risk scores and foveal atrophy in the sample but was more variable. Finally, subgroup 3 was characterized by high genetic risk scores for the extracellular matrix pathway and ARMS2 gene, the presence of reticular pseudodrusen and extrafoveal atrophy, Biarnés-Perez said.
“Geographic atrophy may be a more diverse entity than previously thought, and subgroups can be defined based on genotype and some fundus features,” he said.
- Biarnés-Perez M. Genotype-phenotype correlation in geographic atrophy secondary to age-related macular degeneration. The EYE-RISK Consortium. Presented at: Association for Research in Vision and Ophthalmology meeting; May 6, 2020 (virtual meeting).