Abstract

Purpose: Inherited retinal diseases (IRDs) are among the most common causes of visual impairment in children and young adults. The aim of our study was to characterize early clinical manifestations, main IRDs and causative genes and in a pediatric cohort.

Methods: Retrospective study case series of children with a diagnosed IRD. Data extracted from medical charts included IRD type, clinical manifestations, demographic details and molecular analysis when available.

Results: We have identified 199 children. The earliest and most common symptom was nystagmus (mean age: 1.78 years), followed by photophobia, strabismus and high refractive errors. The most common diagnoses were retinitis pigmentosa (RP), achromatopsia and CSNB; achromatopsia and Leber's congenital amaurosis presented significantly earlier than other IRDs. Most common identified genes were CNGA3, TRPM1, CNGB3 and CRB1.

Conclusions: Nystagmus was the earliest and most common symptom, particularly if disease manifests during the first year of life. Photophobia, strabismus and high refractive errors were also common. Main IRDs in our studied population were RP, achromatopsia and CSNB, and the most common genes identified were CNGA3 and TRPM1, differing from the ones seen later in adulthood.Identification of IRDs early clinical manifestations can help affected families reach early diagnosis, support and family planning.