Natural History of Individuals with Retinal Degeneration Due to Mutations in the CHM Gene

Headshot of Matthew Benson in a laboratory jacket

Matthew Benson, MD 
Assistant Professor
Department of Ophthalmology and Visual Sciences
University of Alberta, Canada

Lay Abstract

This study aims to describe the natural history and progressive clinical course of Choroideremia (CHM) by establishing a comprehensive profile of how visual function and retinal structure decline over time. Using a multi-center retrospective review of medical records from 1995 to 2025, researchers will analyze longitudinal data on visual acuity, visual fields, and OCT imaging from approximately 300 genetically confirmed male patients across the University of Alberta and three additional tertiary centers. The long-term goal is to establish a robust baseline dataset that can help clinicians understand disease progression, inform future clinical trial design, and support the development of prospective therapeutic interventions for CHM.

Key Findings

This research is currently underway. Key findings will be published upon research conclusion.