Retinal venous tortuosity in a woman hemizygous for<i>MBTPS2</i>mutation

Khan, Arif O.; Teneiji, Amal M Al

doi:10.1080/13816810.2018.1558265

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Physiopathology1

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2020

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“…Anomalous and exaggerated vascular tortuosity may result from gene expression. [45][46][47][48][49][50][51] Many situations have been defined, with the most representative being Family Retinal Arteriolar Tortuosity (FRAT) and Fabry disease. FRAT is inherited in an autosomal dominant pattern (COL4A1, COL4A2; 13q34) which, in the majority of cases, is restricted to the retina.…”

Section: Physiopathologymentioning

confidence: 99%

Retinal vascular tortuosity: Mechanisms and measurements

Vilela

Amaral

Ferreira

2020

European Journal of Ophthalmology

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Retinal vessel tortuosity has been used in the diagnosis and management of different clinical situations. Notwithstanding, basic concepts, standards and tools of measurement, reliable normative data and clinical applications have many gaps or points of divergence. In this review we discuss triggering causes of retinal vessel tortuosity and resources used to assess and quantify it, as well as current limitations.

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