Survey finds variation in inherited retinal disease care among U.S. retina specialists
Key Takeaways
- More than 90% of surveyed retina specialists reported actively managing patients with inherited retinal diseases.
- Genetic testing was widely used, but only 55% of respondents provided pretest genetic counseling.
- Just over half of specialists reported confidence in interpreting genetic test results, highlighting variability in IRD care practices.
Recent advances in genetic testing and emerging therapies for inherited retinal diseases (IRDs) are reshaping clinical care, but a new survey suggests that many U.S. retina specialists vary in how they approach genetic counseling and testing and may have limited confidence in their ability to interpret results.
Of the 481 surveys distributed, 116 were completed. Among those respondents, 101 (87.1%) reported actively managing patients with inherited retinal diseases and were therefore eligible to complete the full survey.
Most respondents were between 40 and 60 years of age, with 54% employed in non-university settings and 46% in university-affiliated practices. Sixty percent reported a comfort level greater than 3 on a 5-point scale when evaluating patients with IRDs.
Overall, 92% of providers reported that they regularly order genetic tests. Only 55% of respondents reported providing genetic counseling before testing, whereas 92% said they counsel patients after receiving test results. Access to an in-house genetic counselor was reported by 40% of participants.
Among physicians who manage IRD patients, 51% reported confidence levels greater than 3 on a 5-point scale for interpreting genetic findings.
The authors concluded that although more than 90% of surveyed retina specialists participate in IRD management, substantial variation in practice patterns and limited confidence in genetic result interpretation underscore the need for clearer guidelines for IRD care.
Reference
Lee P, Nichols B, Wong CW, et al. Inherited Retinal Disease Management in the United States: A Survey of Clinician Practice Patterns. Retina. 2026;doi: 10.1097/IAE.0000000000004910. Epub ahead of print. PMID: 42319905.
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