CE Event Recap: Overview of Inherited Retinal Diseases
On February 28, 2023, Retina Consultants of Texas hosted an enlightening CE event focused on Inherited Retinal Diseases IRDs. Presented by Dr. Kenneth Fan, this session offered a comprehensive overview of IRDs, covering their genetic complexities, diagnostic approaches, and emerging treatments like gene therapy.
Understanding IRDs: A Rare but Complex Group
Dr. Fan began with an introduction to IRDs, emphasizing their rarity and genetic basis:
- Prevalence: Affecting approximately 200,000 individuals in the U.S. and 4 million globally.
- Genetics: Over 270 causative genes have been identified, making IRDs genotypically complex, as multiple genes can cause the same disorder.
- Inheritance: These conditions are passed down from parents and exhibit a wide range of symptoms and severity.
Dr. Fan categorized IRDs into three primary groups: photoreceptor diseases, macular dystrophies, and others, highlighting notable conditions within each. He then shared insights on diagnostic approaches for IRD, touching extensively on:
- Wide-field imaging and autofluorescence: Crucial for visualizing retinal abnormalities
- Electrophysiology: Measures electrical activity in response to light stimuli, helping identify photoreceptor function
- Family history: A key factor in diagnosing IRDs
Advances in Gene Therapy
The session concluded with an exciting glimpse into the future of IRD treatment, focusing on gene therapy. Dr. Fan explained how subretinal delivery of a gene vector could correct genetic mutations, offering hope for conditions like retinitis pigmentosa and Stargardt disease.
To attend Retina Consultants of Texas’s next CE Zoom event, please register here for updates.