Medical Genetics in Ophthalmology: Through the Lens of Genetics-Informed Therapies OnDemand-Ophthalmic Genetics Specialty Training

Ophthalmic Genetics Specialty Training – Ophthalmologists, Geneticists, or Both?

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Video Summary

The field of ocular genetics, intersecting genetics and ophthalmology, is rapidly growing due to advances in gene discovery and therapy. Despite over 400 genes linked to retinal dystrophies, there are fewer than 75 specialized ocular geneticists worldwide, causing a vast treatment gap. Most genetic eye care is provided by ophthalmologists with varying training levels, as formal oculogenetics fellowships are scarce and unstandardized. Collaboration between geneticists, ophthalmologists, and genetic counselors is crucial to improve diagnosis, testing, counseling, and treatment. Building a community through education, partnership, and shared expertise is essential for advancing ocular genetics and addressing global care disparities.

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Alex V. Levin, MD, MS

Keywords

ocular genetics

retinal dystrophies

gene therapy

ophthalmology

genetic counseling