We detected two heterozygous KAL1 sequence variants occurring at conserved alleles in three females from two unrelated families with SOD (Fig. 1); c.555G > C (p.K185N) identified in a patient with bilateral optic nerve hypoplasia, hypopituitarism and an ectopic posterior pituitary on magnetic resonance imaging (MRI), and c.871C > A (p.P291T), detected in two sisters with bilateral optic nerve hypoplasia, anterior pituitary hypoplasia and a cavum septum pellucidum. The gene discussed is SOD1; the disease is Autosomal dominant optic atrophy, classic type.