Two individuals (A-1 and A-2) had been reported previously and were noted to have retinal dystrophy, but no retinal imaging or electrophysiological findings were described; this study provides the first detailed characterization of their ocular phenotype.<h4>Results</h4>All four affected individuals exhibited a neurodevelopmental phenotype consistent with INTS11-associated disease. This evidence concerns the gene INTS11 and Retinal dystrophy.