Vitreoretinal procedures in inherited retinal diseases: a large retrospective cohort study

Management of inherited retinal diseases (IRDs) traditionally has been viewed as nonsurgical, but there are known complications of IRDs that may warrant surgical intervention. Patterns of procedural interventions among patients with IRDs remain poorly characterized, given their relatively small representation among individual institutions. The objective of this study is to characterize patterns of surgical diagnoses and procedures in patients with IRD compared with a control cohort.

This retrospective cohort study used deidentified aggregated electronic health records from January 1, 2003, through March 30, 2024, from TriNetX, a network with data from more than 119 million patients across 85 health care organizations in 4 countries.

Patients with IRDs and a control group with other posterior segment pathologies were identified and propensity score matched for age, sex, and ethnicity and race. International Statistical Classification of Diseases and Related Health Problems, Tenth Revision, diagnosis codes for inherited retinal diseases (hereditary retinal dystrophy, hereditary choroidal dystrophy, congenital night blindness, achromatopsia, or other colour blindness) or posterior segment pathologies (disorders of choroid and retina, disorders of vitreous body and globe, glaucoma, visual disturbances and blindness, disorders of optic nerve and visual pathways, other disorders of eye and adnexa) were searched. Rates of surgical diagnoses and subsequent procedures in the IRD group were compared with the control group.

Each cohort resulted in 69 235 patients after propensity-score matching. Among patients with IRDs, there was an increased rate of age-related cataracts (risk ratio [RR] 1.39, P < 0.001), other cataracts (RR 1.52, P < 0.001), macular edema (RR 2.98, P < 0.001), epiretinal membrane (RR 1.68, P < 0.001), macular hole/cyst/pseudohole (RR 1.93, P < 0.001), and slightly lower rates of rhegmatogenous retinal detachment (RR 0.87, P = 0.003). There was a greater rate of in-office vitreoretinal procedures, such as intravitreal injections (RR 2.22, P < 0.001), laser (RR 1.32, P < 0.001), and cataract surgery (RR 1.28, P < 0.001). However, there were lower rates of membrane peel (RR 0.74, P = 0.017) and retinal detachment repair (RR 0.60, P < 0.001) and no difference in the rate of macular hole repair (RR 1.09, P = 0.331).

The discordance observed between the prevalence of potential surgical pathologies and the rates of subsequent intervention highlights the complexities in surgical decision-making for patients with IRDs.