Medical Genetics in Ophthalmology: Through the Lens of Genetics-Informed Therapies OnDemand-Welcome and Specialist Language Barriers: What Is the Eye Doctor Saying?

Welcome and Specialist Language Barriers: What Is the Eye Doctor Saying?

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Video Summary

This lecture reviews advances in ophthalmic genetics, tracing progress from Gregor Mendel's inheritance principles to modern gene therapies. Landmark discoveries include identifying genes linked to eye disorders such as retinoblastoma, retinitis pigmentosa, and aniridia. A breakthrough was the gene therapy for RPE65-related retinal dystrophy, pioneered in a dog named Lancelot, leading to Luxturna approval—the first retinal gene therapy. Over 400 genes linked to inherited retinal diseases have been mapped, with ABCA4 causing Stargardt disease being most common. Genetic eye diseases are major causes of childhood and adult blindness, including retinal dystrophies, glaucoma, and macular degeneration, with environmental and epigenetic factors also involved. Comprehensive eye exams and genetic testing enable early diagnosis and treatment. Advances in low vision rehabilitation, natural history studies, and gene-based therapies highlight the importance of early intervention. The field is rapidly evolving, improving understanding, diagnosis, and management of genetic eye disorders, ultimately enhancing patient outcomes and quality of life.

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Elias I. Traboulsi, MD, MEd

Keywords

low vision rehabilitation

gene-based therapies

RPE65 trials

vision enhancement technology

ophthalmic genetics

gene therapy

inherited retinal diseases

RPE65 retinal dystrophy

genetic eye disorders