Figure 3. Identification of a novel homozygous likely pathogenic variant in ATOH7 (c.254C>T). A: The family pedigree demonstrating two similarly affected sisters (F10/P11&12) born to consanguineous healthy parents. Below the pedigree clinical photos of the two patients showing microphthalmia, cataracts and corneal scarring. B: Partial sequence electropherograms showing the ATOH7 missense variant (c.254C>T) in homozygous state in P11&12 and in heterozygous state in their healthy parents. The nucleotide change is shaded in yellow.