Commonly, pathogenic recessive STRA6 variants result in Microphthalmia, Syndromic 9 (MCOPS9), also known as Matthew Wood Syndrome, where syndromic features include pulmonary, diaphragmatic and cardiac defects, resulting in death within the first 2 years of life [12,17,96,242]. This evidence concerns the gene STRA6 and Matthew-Wood syndrome.