Rare manifestation of familial vitreous amyloidosis caused by Gly103Arg transthyretin.

ABSTRACT:

Aim

To identify and analyze the genotype of the patients with special ocular manifestations of familial vitreous amyloidosis (FVA) in a Chinese Han family.

Methods

Pars plana vitrectomy (PPV) surgery was performed on a 52-year-old Chinese woman presented with vitreous amyloidosis and progressive visual impairment, without evidence of cardiac, renal, gastrointestinal, central nervous system or peripheral nervous system dysfunction. During the surgery, the patient presented with a gray-white dense and thick cotton wool-like change in the vitreous body, accompanied by complete retinal detachment. Additionally, hard, free and movable yellow-white deposits were observed in the posterior pole and surrounding retina, the vitreous and subretinal deposits were examined by Congo red s

SUBMITTER: Feng YB 

PROVIDER: S-EPMC10333243 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature