Retinal arteries, tortuosity

General: Autosomal dominant; retinal 454e46e vascular tortuosity is the isolated physical finding but may be associated with a variety of ocular and systemic anomalies; tortuosity predominantly found in the arteriolar tree.

Ocular: Retinal vascular tortuosity; foveal hemorrhage; macular and paramacular hemorrhages; retinal hemorrhages; peripapillary retinal hemorrhage; juxtapapillary retinal hemorrhage; conjunctival hemorrhage; retinal telangiectasia; asteroid hyalitis; amblyopia; myopia; hyperopia; glaucoma; Coats disease; von Hippel-Lindau syndrome; racemose aneurysms of the retina; arteriolar ectasia.

Clinical: Polycythemia; splenomegaly; recurrent nosebleeds; nasal telangiectasia; pulmonary emphysema; systemic hypertension; aortic coarctation; hereditary hemorrhagic telangiectasia; leukemia; macroglobulinemia; cryoglobulinemia; sickle cell disease; familial dysautonomia; Maroteaux-Lamy syndrome; Fabry disease; hypogammaglobulinemia; intracranial or facial aneurysmal abnormalities; migraine headaches; psoriasis; colitis; diabetes mellitus; hypertension.

Goldberg MF, et al. Familial retinal arteriolar tortuosity with retinal hemorrhage. Am J Ophthalmol 1972; 73: 183-l91.

McKusick VA. Mendelian Inheritance in Man; A Catalog of Human Genes and Genetic Disorders, 12^th ed. Baltimore: The Johns Hopkins University Press, 1998.

Online Mendelian Inheritance in Man, OMIM. McKusick-Nathans Institute for Genetic Medicine, Johns Hopkins University and National Center for Biotechnology Information, National Library of Medicine, February 12, 2007. World Wide Web URL: https://www.ncbi.nlm.nih.gov/omim/.