AAOpt 2026: Understanding the gene therapy landscape for retinitis pigmentosa

In an exclusive interview with Optometry Times, Raman Bhakhri, OD, FAAO, discussed a session he presented with his colleague, Xiao Yu, OD, FAAO, on retinitis pigmentosa (RP) and the contemporary gene-therapy landscape. The lecture, titled “Retinitis Pigmentosa: A Deep Dive in the Contemporary Gene Therapy Landscape,” covered RP background, the range of phenotypes, current and emerging research, and clinical cases.

A major topic was genetic testing and how to interpret results. A positive result can identify a mutation that aligns with the patient’s clinical presentation. However, results may instead be indeterminate—or testing may not identify a mutation. Bhakhri emphasized that an indeterminate result does not rule out RP; it may mean the test panel did not include or detect the relevant mutation. In such cases, clinicians can reconsider the testing approach and potentially repeat testing a few years later, as panels may become more comprehensive. Bhakhri noted that indeterminate results are common, occurring in roughly half or more of the cases he and Dr. Yu encounter.

Bhakhri also addressed the role of general optometrists in ordering and coordinating testing. Clinicians should consider whether they are comfortable with basic genetics, interpreting results, and explaining them to patients. If they are not, referring to an optometry or ophthalmology colleague is appropriate. Bhakhri encouraged clinicians to consult colleagues when results are confusing. He also noted that free testing options are available, while more comprehensive panels may be costly—potentially thousands of dollars if insurance does not cover them—so cost should be discussed with patients.

On treatment, Bhakhri described the field as advancing rapidly compared with when he and Yu were in optometry school, when there seemed to be little to offer patients. Research is underway for multiple forms of RP, but he cautioned that progress has not yet produced many approved treatments. He said that, at the time of the lecture, the only FDA-approved treatment was for patients with RPE65 mutations.

Bhakhri shared a case illustrating the value of testing: a seven-year-old girl with night-vision difficulties was diagnosed with RP. Genetic testing identified an RPE65 mutation, making her eligible for Luxturna treatment at Lurie Children’s Hospital in Chicago. Bhakhri said the treatment was life-changing and that the girl’s night-vision symptoms resolved, with no vision loss reported after treatment.

The central clinical takeaway was to think beyond the classic RP triad of vessel attenuation, bone-spicule pigmentation, and disc pallor. Some patients may not show all—or any—of these signs. Bhakhri recommended considering multimodal imaging and genetic testing to support diagnosis, rather than excluding RP solely because the traditional findings are absent.