Abstract

Early-onset inherited retinal dystrophies (IRDs) that occur during infancy are chronically debilitating and challenging to diagnose based on behavioral examinations. During infancy, there are few neurological or ophthalmological signs that would facilitate definitive diagnosis, like the presence of a near normal fundus or isolated retinal pigmentary changes. In light of these limitations, relying on both electro-clinical phenotypes and genetic sequencing data could facilitate accurate diagnosis of early-onset IRD.

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