Genetics Knowledge Among Ophthalmology Residents: A Focus on Genetic Conditions with Ocular Findings

Katherine Ledden, BS (Advisor: Leslie Dunnington, MS, CGC)

Background: Ophthalmologists are uniquely positioned to recognize ocular manifestations that may constitute further workup for a genetic etiology. Yet, the extent of genetics training in ophthalmology residency remains largely unexplored. This study assesses the current state of genetics curriculum within ophthalmology residency and describes resident’s requests for further professional development and academic support.

Methods: An electronic survey for current U.S. ophthalmology residents assessed training volume, frequency of educational methods, surveyed inclusion of conditions in curriculum, and measured confidence. Knowledge was assessed using a 35-question quiz. Qualitative responses revealed desired curricular changes. Recruitment ran from July to December 2025.

Results: Fifty-three residents participated. Most had less than 20 hours of genetics instruction annually. Residents had nominal awareness of most genetic conditions queried. Non-intern residents achieved significantly higher quiz scores than PGY-1 residents (z = −1.97, P = .048). Median confidence (60.7%) did not correlate with quiz performance (P = .147). Nearly half (46.1%) were dissatisfied with their genetics training. Qualitative analysis revealed demand for more frequent instruction, case-/problem-based learning, and support in clinical decision making.
Conclusion: Gaps in diagnostic accuracy present risks for both life-threatening false negatives and economically wasteful false positives. To optimize training, programs may consider integrating curricular changes that reflect resident preferences.

Advisory Committee:

• Leslie Dunnington, MS, CGC, Chair
• Meagan Choates, MS, CGC
• Laura Farach, MD
• Smantha Montgomery, MS, CGC
• Ruchi Shah, MD

Join via Microsoft Teams (Please contact Ms. Ledden for her Teams meeting info.)