According to Olsen (1978) a possible early description as a syndrome with retinal vascular tortuosity were reported by Beyer in 1958 . Since that initial reference, several families with retinal arteriolar tortuosity, superficial macular hemorrhages and autosomal dominant transmission have been described worldwide . Sutter & Helbig (2003) made a review of this disturb . In 2005 Plaisier et al. described a syndrome with retinal arteriolar tortuosity, haematuria and contractures with an autosomal dominant pattern and an evidence that is caused by heterozygous mutation in the COL4AI gene (120130) .