The family of crooked arteries

Abstract

Familial retinal arterial tortuosity syndrome (fRATs) is an autosomal dominant condition characterized by Tortuosity of second‐ and third‐order retinal arterioles but no retinal hemorrhages. We present a case series of a family of three affected members with fRATS. The 47-year-old father presented with diminution of vision, and we found preretinal and intraretinal hemorrhages in the macula. Retinal arterioles of the second‐ and third‐order were tortuous. We examined his children and found similar retinal findings. Clinical exome sequencing revealed a heterozygous c.1501G>A (p.Gly501Ser) mutation involving the COL4A1 gene. To our knowledge, this is the first case report of fRATS from India.