Novel Compound Heterozygous Variants in LTBP2 Associated with Relative Anterior Microphthalmia. Homo sapiens

Relative anterior microphthalmia (RAM) is a rare congenital defect associated with severe vision impairment and is primarily caused by genetic alterations. The purpose of this study was to identify the causative genetic variants in two Chinese families with relative anterior microphthalmia with a recessive inheritance pattern.