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

Abstract

Inherited Retinal Degenerations (IRDs) are a group of diseases where genetic variants lead to retinal photoreceptor dysfunction and subsequent visual impairment. We aimed to compare the characteristics of pediatric versus adult IRD patients at the time of presentation at a tertiary care IRD clinic. A retrospective chart review of 538 patients with IRDs was conducted. Information obtained included age, diagnosis, presenting characteristics, demographics, distance from the clinic, and referring physician. This study found that high hyperopia, congenital syndactyly, high refractive error, high astigmatism, and a history of developmental delay were most predictive of pediatric presentation. In adults, we found reduced central vision, peripheral vision loss, color vision deficits, nyctalopia, flashes/floaters, cataracts, diabetes mellitus, obesity, cardiac conditions, and a family history of cataract were most predictive of presentation. There was a greater proportion of pediatric patients presenting from 20 or more miles away. Additionally, there was no significant difference between the type of healthcare provider referring adult or pediatric patients. This study identifies characteristics predictive of pediatric and adult presentation in IRD patients thus addressing current knowledge gaps. A better understanding of these characteristics may provide for quicker recognition, education of clinicians likely to encounter IRDs, and allow for earlier treatment.