en Genetics & Disease Genetics & Disease Case Report Case Report <p style="text-align: justify;">Anophthalmia or microphthalmia (A/M) is a rare group of congenital/developmental ocular malformations, characterized by absent or small eye within the orbit affecting one or both eyes. It &nbsp;has complex etiology with chromosomal, monogenic with high heterogeneity, and environmental causes. We performed genome SNP-array analysis followed by autozygosity mapping and sequencing in the members of two families in which three individuals are suffering from severe bilateral anophthalmia. The genetic analysis revealed a novel missense c.709G>A mutation in exon 7 of <em>ALDH1A3</em> (aldehyde dehydrogenase 1 family member A3), causing a substi<em> </em>tution of glycine (Gly) to arginine (Arg) at residue 237. This study consolidates the importance of <em>ALDH1A3</em> gene screening in autosomal recessive anophthalmi<strong> </strong>a. This variation may also be suggestive of a founder effect in the southeastern area of Iran.</p> Anophthalmia, ALDH1A3, consanguinity, autosomal recessive, SNP array 131 134 http://ijmcmed.org/browse.php?a_code=A-10-1117-1&slc_lang=en&sid=1 Mohammadreza Dehghani dehghani.dr@gmail.com 10031947532846009357 10031947532846009357 No Medical Genetics Research Center, Shahid Sadoughi University of Medical Sciences, Yazd, Iran. Masoud Dehghan Tezerjani masoud.msdco@gmail.com 10031947532846009358 10031947532846009358 No Research and Clinical Center for Infertility, Shahid Sadoughi University of Medical Sciences, Yazd, Iran. Zahra Metanat dr_zahrametanat@yahoo.com 10031947532846009359 10031947532846009359 No Provincial Clinical Genetic Counseling Center, Zahedan University of Medical Sciences Zahedan, Iran. Mohammad Yahya Vahidi Mehrjardi mmvahidi@gmail.com 10031947532846009360 10031947532846009360 Yes Medical Genetics Research Center, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.