Abstract

Purpose: Inherited retinal diseases (IRDs) are among the most common causes of visual impairment in children and young adults. The aim of this study was to characterize early clinical manifestations, main IRDs, and causative genes 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: The authors 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, achromatopsia, and congenital stationary night blindness; achromatopsia and Leber congenital amaurosis presented significantly earlier than other IRDs. Most common identified genes were CNGA3 , TRPM1 , CNGB3 , and CRB1 .

Conclusion: 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 their studied population were retinitis pigmentosa, achromatopsia, and congenital stationary night blindness, 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.