Episode 41 - Ocular Genetics: Monogenic Diseases, Inheritance Patterns & Genetic Counseling.

Hi, I am Dr Thomas Whitelaw and in this episode of Basic Sciences in Ophthalmology, we take a deep dive into ocular genetics, one of the most important and rapidly evolving areas in modern ophthalmology.

Understanding the genetic basis of eye disease is essential for diagnosis, prognosis, and patient management—particularly as gene-based therapies continue to emerge.This episode breaks down complex concepts into clear, exam focused explanations for ophthalmology trainees and clinicians.

What you’ll learn in this episode:

Monogenic eye diseases
Explore how single-gene mutations can lead to conditions such as retinitis pigmentosa, congenital glaucoma, and albinism. We discuss key genetic concepts including allelic heterogeneity, variable expressivity, and reduced penetrance, and how these explain differences in disease severity between patients.

Inheritance patterns in ophthalmology
Understand the major modes of inheritance:

Learn how to interpret family history and pedigree charts, and how to calculate recurrence risks, including the classic 50% and 25% probabilities seen in dominant and recessive conditions.

Genetic counseling in clinical practice
Discover how genetic counseling supports patients and families by:

We also cover when to refer patients for genetic counseling and why it is a critical component of managing inherited eye disease.

Why this episode matters:

Ocular genetics underpins many of the conditions you’ll encounter in ophthalmology exams and clinical practice. A solid understanding of these principles will help you:

Perfect for:

FRCOphth Part 1 revision

Ophthalmology trainees and medical students

Optometrists and eye care professionals

Anyone interested in the science behind inherited eye disease

Based entirely on core ophthalmology science texts used for this podcast series, ensuring accurate, exam-relevant content.

#Ophthalmology #OcularGenetics #FRCOphth #MedicalEducation #RetinitisPigmentosa #GeneticCounseling #EyeDisease #OphthalmologyPodcast #Cornea #Retina #BasicSciences