COL4A1 and glaucoma: In this study, we describe a rare case of autosomal recessively inherited homozygous missense COL4A1 variants in 2 brothers, parents of whom are first-degree cousins, with small vessel brain disease including small internal porencephaly, associated with eye defects such as retinal vessels tortuosity, Axenfeld-Rieger anomaly, cataract, and glaucoma.