Figures (2)  Tables (1)

    • Figure 1. 

      Flow diagram of the literature search, exclusion, and inclusion.

    • Figure 2. 

      Evolutionary conservation and structural prediction of the TTR Gly83Arg variant. (a) The schematic of the TTR gene and the c.307G > C mutation in Exon 3. (b) The glycine at Position 83 of TTR is highly conserved among humans and other organisms. (c) Structural graphic of the TTR protein's tetramer, EF helix (Thr75-Leu82), and EF loop (Gly83−Glu89) and a schematic of the Schellman helix C-capping motif described in a previous study[31]. (d) The PPI network shows a close relationship between the TTR protein and RBP4. (e) Graphic of TTR-RBP4 and the structural prediction of TTR Gly83Arg substitution. Disallowed phi/psi angles are detected. TTR, transthyretin; PPI, protein-protein interaction; RBP4, retinol-binding protein 4.

    • Study
      No.      		 Author, year Number of
      families      		 Family members
      (Gly83Arg/all affected)      		 Onset age (yrs),
      mean (range)      		 Clinical manifestation Region, ethnic
      group      		 Ref.
      VO Beyond VO Other systems
      1 Xu 2025;
      Xu 2013      		 1 18/25 47 (37−61) + RAA, NV, GLC, RD − Guizhou, China, NA [13,14]*
      2 Chen 2025;
      Su 2023;
      Xie 2017      		 1 14/20 41 (29−52) + VH, RAA, NV, GLC PN Guizhou, China, Han [15−17]
      3 Xiong 2024 1 3/10 NA + − PN China, NA [18]
      4 Feng 2023 1 2/8 46 + RD − China, NA [19]
      5 Shen 2022 1 4/9 35 (31−41) + VH, RAA − China, NA [20]
      6 Li 2021 3 Family I: 3/6;
      Family II: 1/5;
      Family III: 2/3      		 35 (34−36);
      42;
      43 (42−43);
      Total 39 (34−43)      		 + − PN, AN, heart China, Han [21]
      7 Yu 2021 1 5/8 NA (32−43) + GLC − Guizhou, China, Han [22]*
      8 Yin 2014 1 2/3 NA + − − Yunnan, China, NA [23]
      9 Liu 2014 1 12/22 41 (37−47) + RAA, GLC PN, heart Guizhou, China, NA [24]
      10 Zhang 2013 3 Family A: 5/11
      Family B: 2/8
      Family C: 2/7      		 34 (30−19);
      43 (40−45);
      40 (40−40);
      Total 37 (30−45)      		 + − − Yunnan, China, Han [25]
      11 Xie 2012 1 3/4 40s + − − Guizhou, China, Li [26]*
      12 Chen 2011;
      Chen 2008      		 2 Family A: 1/6;
      Family B: 1/9      		 NA (41−43) + RAA − China, NA [27,28]*
      Family members (Gly83Arg/all affected), the number of affected family members who were confirmed to carry the TTR Gly83Arg variant divided by the number of all symptomatic family members. Beyond VO, ocular manifestations other than vitreous opacity. NA, not available; RAA, retinal amyloid angiopathy; NV, neovascularization; GLC, glaucoma; RD, retinal detachment; VH, vitreous hemorrhage; PN, peripheral neuropathy; AN, autonomic neuropathy; heart, cardiac involvement; Han, Han ethnic group; Li, Li ethnic group. * The paper was published in Chinese with an English abstract.

      Table 1. 

      Family history features and clinical manifestations of all reported ATTRG83R amyloidosis cases.