Inherited Retinal Disease Management in the United States: A Survey of Clinician Practice Patterns

Recent advances in inherited retinal disease (IRD) management, including genetic testing and emerging therapies, have increased complexity in clinical decision- making. This study examined IRD-related practice patterns among U.S. retina specialists.

An 18-item questionnaire developed by a combination of retina and IRD specialists (KCF, CCW, HK) was distributed electronically via email to retinal specialists at 35 non-university-based practices and 37 combined university-based/VA practices across the US. All retinal specialists at each institution were included and were assessed regarding their practice patterns for genetic testing, genetic counseling and education, referral to subspecialists or certified genetic counselors, and overall comfort level in assessing IRD patients.

A total of 116 surveys were completed out of 481 distributed. 101 out of 116 (87.1%) indicated they actively manage IRD patients and were eligible to complete the survey in its entirety. Overall, most respondents were between the ages of 40-60 years old (58.6%). 54% were non-university employed, while 46% were university-employed. 60% reported comfort >3 (scale 1-5) in evaluating IRD patients. 92% of providers regularly send genetic tests, while 55% provide pretest counseling. Of the respondents, 92% performed post-test counseling. In-house genetic counselors were available to 40%. For post-test counseling, while almost all respondents actively see IRD patients, 51% stated they felt confident (>3, scale 1-5) interpreting genetic testing results.

Over 90% of surveyed retinal specialists were involved in managing IRDs, but wide variation in practice and limited confidence highlight the need for clearer IRD care guidelines.