AOA members publish paper calling for comprehensive eye exams to detect retinitis pigmentosa

Most patients don’t come into the office wondering if they have retinitis pigmentosa (RP), but a comprehensive eye exam by a doctor of optometry can uncover this inherited condition.  

Rachelle Lin, O.D., and Maria Richman, O.D., were recently involved in a 12-person panel to define improved methods for diagnosing and treating RP and other inherited retinal diseases (IRD). The resulting paper, “Streamlining the diagnostic and management pathways of patients with retinitis pigmentosa,” was published in the February 2026 edition of the journal Ophthalmic Genetics.  

Dr. Lin and Dr. Richman collaborated with other eye health professionals, including general and pediatric ophthalmologists, low-vision specialists, genetic counselors, IRD specialists, and vitreoretinal surgeons, in live and offline discussions about diagnostic techniques and emerging gene therapies. 

The panel concluded that early education and comprehensive eye exams were the most powerful tools for accelerating diagnosis and treatment, leading to longer vision preservation for patients with RP.   

Early testing remains the gold standard  

Because RP is an inherited condition, early testing remains the best way to manage care and identify potential therapies, Dr. Richman says.  

“By offering comprehensive eye examinations, it shortens the detection time, which closes the fragmentation of care,” she says. “Once the IRD is confirmed, the optometrist can coordinate the appropriate referrals, including research facilities, low-vision doctors, state agencies, and support groups.” 

The paper references the AOA’s foundational document, Comprehensive Pediatric Eye and Vision Examination, as a reference standard for eye care. The evidence-based guide highlights the need for a comprehensive eye exam, even if standard screenings haven’t indicated symptoms of RP. The asymptomatic nature of RP can lead to a missed diagnosis, which delays treatment, Dr. Richman says. 

While there has been improvement in the diagnostic and management pathway for patients with RP, doctors of optometry still see patients who would have benefited from earlier referral for resources and specialized testing, Dr. Lin says. “This article highlights the importance of improved access to comprehensive eye care for children and young adults to aid in early diagnosis,” she says, “and the need for continued multidisciplinary collaboration to provide these patients with optimal care throughout their lives.” 

Dr. Richman says educating optometrists is the first step. “By educating our members, it will allow them to be the initial point of care, including providing in-office genetic testing to prepare the patient for their visit with a specialist,” she says.  

The emergence of gene therapies for RP 

If patients have a confirmed diagnosis of RP, new gene therapies may offer some relief and help manage symptoms. Dr. Lin says optometrists can refer patients to low-vision resources and keep them informed about available clinical trials and treatments.  

In 2017, the FDA approved Luxturna, the first gene therapy for an inherited disease. Luxturna works by replacing a faulty gene that causes RP, but it is only appropriate for specific gene mutations. Clinical trials are underway for several other gene therapies that have the potential to provide relief to patients with RP.  

Until a more universal treatment is available, optometry remains the initial point of contact for IRD and RP patients, guided by AOA’s standards for pediatric eye care.