As a result, in an individual with retinal dystrophy and intellectual disability (NCK033), we found a homozygous deletion of five nucleotides in IFT81 resulting in a loss-of-stop codon and extension of the predicted protein by 10 amino acids (c.2015_2019del (p.Asp672Alafs*15)). This evidence concerns the gene IFT81 and Retinal dystrophy.