Cystoid Macular Edema in Non-Syndromic Retinitis Pigmentosa: Associations With Causative Genes in a Large Cohort.

ABSTRACT:

Purpose

To investigate the prevalence of cystoid macular edema (CME) in relation to the disease-causing genes in a large cohort of genetically defined patients with non-syndromic retinitis pigmentosa (RP).

Methods

Spectral-domain optical coherence tomography (SD-OCT) imaging has been retrospectively reviewed in order to assess the presence of CME over the disease course in a cohort of 580 patients with a clinical and genetic diagnosis of non-syndromic RP.

Results

Over the course of the disease, 179 patients (30.9%) developed CME in at least one eye. Based on the patients' genotypes, we found a statistically significant difference in CME prevalence according to the inheritance pattern (P < 0.001), with autosomal dominant forms being more frequently associated with CME

SUBMITTER: Testa F 

PROVIDER: S-EPMC12410279 | biostudies-literature | 2025 Sep

REPOSITORIES: biostudies-literature