Secondary Ophthalmic Features Represent Diagnostic Clues and Potential Points of Intervention for Inherited Retinal Diseases (Target 5000 Report 3).

ABSTRACT:

Background/objective

Inherited retinal degenerations (IRDs) are the leading cause of blind registration in children and adults, yet 30-40% of cases remain genetically unresolved. Deep ophthalmic phenotyping may help to address this shortfall by identifying characteristic phenotypes. We describe the ophthalmic features of patients with stationary or progressive inherited retinal diseases other than outer retinal degeneration (i.e., secondary ophthalmic features, SOFs).

Methods

This is a retrospective review of all patients attending an ophthalmic genetics clinic with a genetically confirmed IRD focusing on SOFs including refractive error, cataract, retinal detachment (RRD), cystoid macular lesions (CML) and epiretinal membrane (ERM). These features were assessed in the contex

SUBMITTER: Stephenson KAJ 

PROVIDER: S-EPMC12733187 | biostudies-literature | 2025 Dec

REPOSITORIES: biostudies-literature