Early Onset Inherited Retinal Diseases: Characterizing Clinical Manifestations and Common Involved Genes

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.