Get 20M+ Full-Text Papers For Less Than $1.50/day. Start a 14-Day Trial for You or Your Team.

Learn More →

Familial Retinal Arteriolar Tortuosity

Familial Retinal Arteriolar Tortuosity An asymptomatic woman in her mid-40s was referred for an opinion regarding unusual fundus findings. Visual acuity was 20/20 OU. Fundus examination revealed tortuosity of the small and medium arterioles in both eyes, primarily in the macular region, without evidence of vascular occlusion, venous stasis, or ischemia on fluorescein angiography (Figure). Examination of the patient’s family members revealed similar vascular tortuosity, leading to a diagnosis of familial retinal arteriolar tortuosity. Figure. View LargeDownload Fundus photography (A) and fluorescein angiography (B) reveal tortuosity of the second- and third-order arterioles with an associated intraretinal hemorrhage (arrowhead) in the right eye. No evidence of vascular occlusion or ischemia was present. Familial retinal arteriolar tortuosity (OMIM #180000) is characterized by tortuosity of the second- and third-order retinal arterioles.1 Inheritance is typically autosomal dominant. Mutation in the COL4A1 gene, which encodes type IV collagen in basement membranes, has been reported.2 While patients are often asymptomatic, retinal and vitreous hemorrhages can occur, particularly after exercise or trauma.1,3 Concurrent systemic conditions, including carotid aneurysms and renal abnormalities, have been reported but no proven systemic association exists.1,4 Similar findings in family members support the diagnosis.1 Back to top Article Information Corresponding Author: M. Ali Khan, MD, Retina Service, Wills Eye Hospital, Thomas Jefferson University, 840 Walnut St, Ste 1020, Philadelphia, PA 19107 (akhan@midatlanticretina.com). Conflict of Interest Disclosures: All authors have completed and submitted the ICMJE Form for Disclosure of Potential Conflicts of Interest and none were reported. References 1. Sutter FKP, Helbig H. Familial retinal arteriolar tortuosity: a review. Surv Ophthalmol. 2003;48(3):245-255.PubMedGoogle ScholarCrossref 2. Zenteno JC, Crespí J, Buentello-Volante B, et al. Next generation sequencing uncovers a missense mutation in COL4A1 as the cause of familial retinal arteriolar tortuosity. Graefes Arch Clin Exp Ophthalmol. 2014;252(11):1789-1794.PubMedGoogle ScholarCrossref 3. Rinaldi C, Bhatnagar P, Yannuzzi LA. Familial retinal arteriolar tortuosity associated with retinal and vitreous hemorrhages. Retin Cases Brief Rep. 2011;5(2):157-159.PubMedGoogle ScholarCrossref 4. Seo JH, Kim I, Yu HG. A case of carotid aneurysm in familial retinal arterial tortuosity. Korean J Ophthalmol. 2009;23(1):57-58.PubMedGoogle ScholarCrossref http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png JAMA Ophthalmology American Medical Association

Familial Retinal Arteriolar Tortuosity

Familial Retinal Arteriolar Tortuosity

Abstract

An asymptomatic woman in her mid-40s was referred for an opinion regarding unusual fundus findings. Visual acuity was 20/20 OU. Fundus examination revealed tortuosity of the small and medium arterioles in both eyes, primarily in the macular region, without evidence of vascular occlusion, venous stasis, or ischemia on fluorescein angiography (Figure). Examination of the patient’s family members revealed similar vascular tortuosity, leading to a diagnosis of familial retinal arteriolar...
Loading next page...
 
/lp/american-medical-association/familial-retinal-arteriolar-tortuosity-yZxaeOeS7e

References (6)

Publisher
American Medical Association
Copyright
Copyright © 2016 American Medical Association. All Rights Reserved.
ISSN
2168-6165
eISSN
2168-6173
DOI
10.1001/jamaophthalmol.2015.4133
Publisher site
See Article on Publisher Site

Abstract

An asymptomatic woman in her mid-40s was referred for an opinion regarding unusual fundus findings. Visual acuity was 20/20 OU. Fundus examination revealed tortuosity of the small and medium arterioles in both eyes, primarily in the macular region, without evidence of vascular occlusion, venous stasis, or ischemia on fluorescein angiography (Figure). Examination of the patient’s family members revealed similar vascular tortuosity, leading to a diagnosis of familial retinal arteriolar tortuosity. Figure. View LargeDownload Fundus photography (A) and fluorescein angiography (B) reveal tortuosity of the second- and third-order arterioles with an associated intraretinal hemorrhage (arrowhead) in the right eye. No evidence of vascular occlusion or ischemia was present. Familial retinal arteriolar tortuosity (OMIM #180000) is characterized by tortuosity of the second- and third-order retinal arterioles.1 Inheritance is typically autosomal dominant. Mutation in the COL4A1 gene, which encodes type IV collagen in basement membranes, has been reported.2 While patients are often asymptomatic, retinal and vitreous hemorrhages can occur, particularly after exercise or trauma.1,3 Concurrent systemic conditions, including carotid aneurysms and renal abnormalities, have been reported but no proven systemic association exists.1,4 Similar findings in family members support the diagnosis.1 Back to top Article Information Corresponding Author: M. Ali Khan, MD, Retina Service, Wills Eye Hospital, Thomas Jefferson University, 840 Walnut St, Ste 1020, Philadelphia, PA 19107 (akhan@midatlanticretina.com). Conflict of Interest Disclosures: All authors have completed and submitted the ICMJE Form for Disclosure of Potential Conflicts of Interest and none were reported. References 1. Sutter FKP, Helbig H. Familial retinal arteriolar tortuosity: a review. Surv Ophthalmol. 2003;48(3):245-255.PubMedGoogle ScholarCrossref 2. Zenteno JC, Crespí J, Buentello-Volante B, et al. Next generation sequencing uncovers a missense mutation in COL4A1 as the cause of familial retinal arteriolar tortuosity. Graefes Arch Clin Exp Ophthalmol. 2014;252(11):1789-1794.PubMedGoogle ScholarCrossref 3. Rinaldi C, Bhatnagar P, Yannuzzi LA. Familial retinal arteriolar tortuosity associated with retinal and vitreous hemorrhages. Retin Cases Brief Rep. 2011;5(2):157-159.PubMedGoogle ScholarCrossref 4. Seo JH, Kim I, Yu HG. A case of carotid aneurysm in familial retinal arterial tortuosity. Korean J Ophthalmol. 2009;23(1):57-58.PubMedGoogle ScholarCrossref

Journal

JAMA OphthalmologyAmerican Medical Association

Published: Mar 1, 2016

Keywords: eye diseases, hereditary,retinal hemorrhage,fluorescein angiography,eye,fundus photography

There are no references for this article.