Retinal arterial tortuosity (RATOR) is a rare autosomal dominant disorder characterized by tortuosity of the second and higher order retinal arterioles. It may be asymptomatic but may cause visual loss with recurrent retinal hemorrhages. It has been reported that RATOR is associated with mutations in the COL4A1 gene, which encodes a component of type IV collagen.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Structural developmental anomalies primarily affecting one body system
Structural developmental anomalies of the eye, eyelid or lacrimal apparatus
LA13 Structural developmental anomalies of the posterior segment of eye
H02880 Retinal arterial tortuosity
Pathway-based classification of diseases [BR:br08402]
Cellular process
nt06548 Integrin signaling
H02880 Retinal arterial tortuosity
