Patients with Early-onset IRDs Show Progressive Decline in Refractive Error

Refractive error patterns vary by IRD subtype in children with early-onset disease, as highlighted in a new study. This differentiation highlights the need for individualized monitoring and management strategies. Photo: Azmon R, et al. Eye. September 12, 2025. Click image to enlarge. Inherited retinal diseases (IRDs) are a primary cause of visual impairment and blindness in children and young adults and account for 23% of low vision cases in the working-age population. Yet, substantial gaps remain in understanding how different IRD subtypes correlate with specific refractive error patterns. A recent study published in the journal Eye aimed to bring some clarity by analyzing the natural history of refractive errors in children with various IRDs. The findings underscore a significant association between specific disease subtypes, genetic factors and refractive progression.The study employed a retrospective cohort design, focusing on children diagnosed with IRDs who were monitored over a span of several years at a specialized low vision clinic functioning as a national referral center for visual impairments. Data were collected from 199 patients, with a mean age at diagnosis of 3.6 and a follow-up period averaging 5.6 years. Genetic testing was performed on most of the cohort, leading to the identification of pathogenic variants in 137 patients.Initially, patients with retinitis pigmentosa and achromatopsia presented with high hyperopia; however, there was a noticeable declining trend in refractive errors over time for these conditions. Patients with specific genetic mutations, such as CNGA3 and CNGB3, also exhibited high hyperopia but, intriguingly, individuals with CRB1 mutations maintained their high hyperopic status consistently throughout the follow-up period.In contrast, those diagnosed with congenital stationary night blindness (CSNB) and blue cone monochromacy exhibited a tendency toward high myopia, which worsened over time in CSNB patients; between the first and last visit, the prevalence of high myopia rose from 51.5% to 68.7% among children with this IRD subtype. Moreover, patients with TRPM1 gene mutations—one of the most common causes of autosomal recessive CSNB—showed an average myopic shift of -0.56D per year. The researchers reflected on these findings in their paper, arguing that this observed differentiation in refractive patterns highlights the need for individualized monitoring and management strategies tailored to the specific IRD subtype. “TRPM1-related myopia keeps progressing during the first decade of life, warranting regular screening and consideration of early myopia control interventions to mitigate the risk of myopia-related sight-threatening complications,” the study authors wrote. They also noted that high hyperopia is common in RP, “staying especially high in CRB1-related cases, highlighting the importance of early screening and refractive correction.”Click here for the journal source. Azmon R, Kahtan BE, Hendler K, et al. Natural course of refractive errors in early onset inherited retinal diseases. Eye. September 12, 2025. [Epub ahead of print]. This article was developed by the editorial staff in conjunction with experts in the field. In the process, AI may have been among the editorial tools used to meet the goals of human editors, who approved all content.