Characteristics and Predictors of Pediatric and Adult Patients with Inherited Retinal Degenerations: Tertiary Care Ophthalmology Clinic Data.

INTRODUCTION

Inherited retinal degenerations (IRDs) are genetically driven disorders affecting retinal photoreceptors, the retinal pigment epithelium, bipolar cells, and other retinal structures. This study aimed to compare characteristics of pediatric versus adult patients at the time of initial presentation to a tertiary care IRD clinic.

METHODS

A retrospective chart review of 527 patients diagnosed with IRDs was conducted. Data collected included age at presentation, diagnosis, ocular and systemic characteristics, demographics, distance from home to the clinic, and type of referring provider.

RESULTS

High hyperopia, high myopia, high astigmatism, congenital syndactyly, and developmental delay were more common among pediatric patients. Adult patients more frequently presented with reduced central vision, peripheral vision loss, color vision deficits, nyctalopia, flashes/floaters, cataracts, and family history of cataracts. Compared to a control population, adult IRD patients had higher rates of cardiac conditions, lower prevalence of obesity, and similar rates of diabetes. No significant differences were found in type of referring provider or proximity to the clinic.

DISCUSSION: Distinct clinical and familial characteristics were associated with age at presentation. Pediatric patients often exhibited refractive and developmental features, while adults presented with progressive vision symptoms. Despite assumptions, geographic proximity did not significantly influence age at presentation, suggesting other barriers to care.

CONCLUSIONS

This study identifies characteristics associated with pediatric and adult presentation in patients with IRDs. Better understanding of these patterns may improve early recognition, clinician education, and timely treatment.