ABSTRACT
Background Familial vitreous amyloidosis is a rare ocular regional amyloidosis,and it is a kind of autosomal dominant inheritance disease.Familial vitreous amyloidosis demonstrates a variable penetrance due to the mutation in the plasma thyroid hormone-binding protein transtheretin (TTR) gene.Many studies have reported over 100 types of TTR genetic mutation in Switzerland,Portugal and Japan,but rare in China.Objective This survey aimed to investigate the clinical and genetic mutation characteristics in familial vitreous amyloidosis.Methods Physical and eye examinations were performed on 52 family members of this vitreous amyloidosis family.Peripheral blood samples from 52 members were collected for TTR gene test by DNA extract,PCR amplification,clone,bolting and sequencing.Pars plana vitrectomy was firstly performed prior to the pathological examination of vitreous sample on 13 eyes of 8 members.Informed consent was obtained from each individual before any medical procedure.Results Seventeen members suffered from vitreous amyloidosis in this family without nervous system,heart,kidney and liver disease.Vitreous opacity was found in 34 eyes of the 17 members,and retinal vasculopathy was seen in 28 eyes of 15 members.In addition,cataract appeared in 16 eyes of 10 members.None of the members had glaucoma or ocular motility disorders.Congo red test of vitreous specimens showed a positive result in 13 eyes of 8 patients who received vitrectomy.Point mutation was verified on the 83th amine acid location of exon 3 (Gly83Arg) in TTR gene by gene sequencing.Conclusions Clinical characteristics of familial vitreous amyloidosis induced by TTR gene Arg-83 mutation is rate retinal vasculopathy without glaucoma,other ocular regional disease and systemic diseases.