DOI: 10.36347/sjmcr.2019.v07i07.015

Pages: 450-451

A 10-days-old girl with fetal ventricular dilatation was referred for ophthalmological evaluation. Magnetic resonance imaging detected dilatation of the lateral ventricles with porencephaly and intracranial hemorrhages in the occipital lobe. Funduscopy revealed increased tortuosity of the retinal arterioles, arteriovenous anastomosis and intraretinal hemorrhage. Exome sequencing revealed a known mutation, c. 2253G>A, p. (Gly555Arg) in collagen type IV alpha 1 (COL4A1). During the follow-up period, posterior subcapsular cataract was progressed in the left eye. This is the youngest patient with COL4A1 mutation documented by fundus photographs to be reported. Fundus examination was useful in visualizing retinal vascular changes in patients with COL4A1 mutation.