ALDH1A3 and Anophthalmia: However, a review of all known disease-causing mutations in ALDH1A3 (Fig. 2 and Table 1) does not seem to support this hypothesis, with no consistent correlation between a particular phenotype (anophthalmia or microphthalmia) and the nature of variation (missense, nonsense, frameshift or splice variants) or the protein domain affected (NAD-binding domain, catalytic domain or oligomerization domain).