Only two clear-cut reported pathogenic variants were identified in this case; both were identified as heterozygous in AR genes: FTCD: c.1366dupG, which has been reported to cause Formiminoglutamic Aciduria and is non-relevant to the case phenotype, and CLRN1: c.144T>G [p.(N48K); Figure 1], which is well described in the literature as a founder mutation in the Ashkenazi population known to cause Usher type 3 [18,19]. This evidence concerns the gene FTCD and formiminoglutamic aciduria.