Photo Credit: Shidlovski

Ocular surgery can preserve or improve vision for patients with inherited retinal diseases and may be important for associated conditions, such as cataracts.

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Approximately one-third of patients with inherited retinal diseases (IRDs) undergo ocular surgery procedures with “a broad range” of indications, Lukas Mees, MD, and colleagues wrote in Ophthalmology Retina.

Cataract extraction with intraocular lens implantation (CEIOL) was the most common surgery for patients with IRDs. The authors noted that this procedure was performed earlier and more often in retinitis pigmentosa (RP) than in macular/cone/cone-rod dystrophy (MCCRD). Refractive and retinal surgery occurred more regularly in MCCRD than in RP.

Dr. Mees and colleagues conducted a retrospective cohort study of adult patients diagnosed with IRD treated at the Johns Hopkins Genetic Eye Disease Center.

They divided patients (average age, 51.5) into two groups: 382 (51.9%) with central dysfunction and 354 (48.1%) with panretinal or peripheral dysfunction. Overall, 278 participants (37.8%) had positive genetic test results, 205 (27.9%) had negative or inconclusive results, and 253 (34.4%) had not undergone genetic testing.

The researchers analyzed associations between patients and disease factors on the frequency, distribution, and timing of surgeries.

Among the 736 patients the researchers evaluated, Dr. Mees and colleagues found that:

• About a third of patients (n=230; 31.3%) had undergone ocular surgery; 180 (78.3%) had surgery in both eyes.
• Of the 602 surgical procedures analyzed, CEIOL was the most common (51.2% of procedures), followed by yttrium aluminum garnet laser capsulotomies (13.4%), retinal surgeries (9.1%), refractive surgeries (7.6%), and other, less common procedures.
• CEIOL occurred more frequently in RP than in MCCRD (prevalence OR, 2.59; P=0.002).
• Patients with RP underwent CEIOL procedures at younger ages than those with MCCRD (HR, 2.11; P<0.001).

An Outside Expert’s Perspective

The results are not surprising for clinicians who routinely care for patients with IRDs and know their surgical management needs, says Michael B. Gorin, MD, PhD, who was not involved in the study.

“Even so, the study is important,” he notes. “It highlights that these patients frequently do require surgical intervention and that they should not simply be given the diagnosis of an IRD, told it is untreatable, and sent away without follow-up.”

Further, patients with IRDs may require ongoing evaluation and care for the other conditions that can occur in the eye. Particular attention to those associated with IRDs, such as cataracts, macular edema, and glaucoma—especially if they are treated with steroids—is needed, he explains. “The IRD itself may limit patients’ visual function, but surgical management of these issues is often required and can provide them with real benefits.”

The study by Dr. Mees and colleagues did not address outcomes and complications arising from these surgical treatments in patients with IRDs, according to Dr. Gorin. Recent research has documented an increased risk for postsurgical macular edema after cataract surgery in these patients.

“Issues like capsular rupture, intraocular lens decentration, and glaucoma surgical outcomes still need to be addressed. We need to reach a better consensus on the best practices for preventing and managing these potential complications in IRD.”

Applying the Findings in Research and Practice

Dr. Gorin hopes the study will remind clinicians to provide consistent, ongoing care for patients with IRDs.

“Given that IRDs typically cause secondary changes throughout the eye, clinicians should not assume that the surgical management of these patients is necessarily the same as the management of patients with no retinal degenerative conditions,” he advises. “However, we should not assume that patients with IRDs will not potentially benefit from managing other ocular pathology that can further compromise their vision.”

Dr. Mees and colleagues also provided directions for future research.

“As ocular surgery for routine indications plays an important role in preserving or improving vision in people with IRD, prospective surgical outcomes research in IRD eyes is warranted,” they wrote. “A better evidence base regarding surgical outcomes in IRD will likely illuminate clinical decision-making and potentially inform surgical strategy development for retinal cell and gene therapy delivery approaches.”

Key Takeaways

• About a third of patients with inherited retinal diseases have undergone ocular surgery, and most patients had surgery in both eyes.
• Of 602 surgical procedures analyzed, cataract extraction with intraocular lens implantation was the most common.
• Ocular surgery has a role in preserving or improving vision for patients with inherited retinal diseases.