Genetics Knowledge Among Ophthalmology Residents: A Focus On Genetic Conditions With Ocular Findings
Author ORCID Identifier
0009-0004-3767-6490
Date of Graduation
5-2026
Document Type
Thesis (MS)
Program Affiliation
Genetic Counseling
Degree Name
Masters of Science (MS)
Advisor/Committee Chair
Leslie Dunnington, MS, CGC
Committee Member
Meagan Choates, MS, CGC
Committee Member
Ruchi Shah, MD
Committee Member
Laura Farach, MD
Committee Member
Samantha Montgomery, MS, CGC
Committee Member
Kathryn Leal, MS, CGC
Abstract
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 (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.
Recommended Citation
Ledden, Katherine, "Genetics Knowledge Among Ophthalmology Residents: A Focus On Genetic Conditions With Ocular Findings" (2026). Dissertations & Theses (Open Access). 1529.
https://digitalcommons.library.tmc.edu/utgsbs_dissertations/1529
Keywords
ocular genetics, ocular, genetics, ophthalmology, residency, inherited eye disease, ocular phenotype
Included in
Genetics and Genomics Commons, Higher Education Commons, Medical Genetics Commons, Ophthalmology Commons