The identification of a novel variants in ALDH1A3 in the present study consolidates the key role of this gene in autosomal recessive anophthalmia and microphthalmia, contributes to the expanding spectrum of disease-causing ALDH1A3 gene variants, and emphasizes the key function of ALDH1A3 in human eye development. This evidence concerns the gene ALDH1A3 and microphthalmia.