Fig. 2.

ALDH1A3 gene mutations associated with anopthalmia and microphthalmia. a Schematic representation of exons of the ALDH1A3 gene highlighting the positions of all disease causing mutations identified to date. b Domains of predicted protein product as described by Moretti and colleagues [11], highlighting the positions of all disease associated variants identified to date. Discrete color pattern of variants shows type of phenotype (red: anophthalmia, blue: micophthalmia and a combination of red and blue: both anophthalmia and microphthlamia