Retinal Arteriolar Tortuosity and Other Dimorphisms - A New Syndrome

Volume 4 - Issue 4

Jessica G Sigler Morales¹ and Aldo A Sigler Villanueva²*

Received: January 17, 2020;   Published: January 31, 2020

DOI: 10.32474/RRHOAJ.2020.04.000195

Full Text PDF

To view the Full Article   Peer-reviewed Article PDF

Abstract

According to Olsen (1978) a possible early description as a syndrome with retinal vascular tortuosity were reported by Beyer in 1958 [1]. Since that initial reference, several families with retinal arteriolar tortuosity, superficial macular hemorrhages and autosomal dominant transmission have been described worldwide [2]. Sutter & Helbig (2003) made a review of this disturb [3]. 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) [4].

Introduction| References|