Abstract
According to Olsen (1978) a possible early description as a syndrome with retinal vascular tortuosity were reported by Beyer in 1958...
Highlights
According to Olsen (1978) a possible early description as a syndrome with retinal vascular tortuosity were reported by Beyer in 1958 [1]
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]
We described the clinical characteristic of two sisters, 46 and 44 years-old, who had a retinal arteriolar tortuosity and several abnormalities such as brachydactylic and other dysmorphic disorders of fingers and toes, hallux valgus, telangiectasia in cheeks and upper thorax, protruding ears, frontal hyperostosis, pectus excavatum and mild mitral insufficiency
Summary
According to Olsen (1978) a possible early description as a syndrome with retinal vascular tortuosity were reported by Beyer in 1958 [1]. Retinal Arteriolar Tortuosity and Other Dimorphisms - A New Syndrome Several families with retinal arteriolar tortuosity, superficial macular hemorrhages and autosomal dominant transmission have been described worldwide [2]. 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].
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