A family with extremely early onset ATTRv amyloidosis and an F44S mutation in China.

The left eye was vitrectomized for vitreous opacities, and pathological examination of the vitrectomy stained with alkaline Congo red showed amyloid deposits, which confirmed ATTRv amyloidosis. Nerve conduction studies showed the amplitude reduction of compound muscle action potentials (CMAPs) in the right common peroneal nerve. Hereditary transthyretin (ATTRv) amyloidosis is an autosomal dominant disease mainly characterised by abnormal deposition of amyloid fibrils that lead to multisystem disorders [[1]]. [Extracted from the article]