Objective:To analyze the clinical characteristics and transthyretin ( TTR) gene mutation of a family with familial vitreous amyloidosis (FVA). Methods:A pedigree investigation was performed.The clinical data of 20 family members of a Han family with FVA treated in the Affiliated Hospital of Guizhou Medical University from May 2005 to March 2019 were collected, including demographic data and ophthalmic examination results.Nine eyes of five patients underwent vitrectomy successively, and vitreous samples collected during operation were sent for pathological examination by Congo red staining.The best corrected visual acuity (BCVA) and intraocular pressure (IOP) were measured, and the anterior segment as well as fundus was observed under the slit lamp microscope at 1 week and 6 months after surgery.Peripheral venous blood (4 ml) was collected from 20 members in this family and DNA was extracted.The next-generation sequencing technology was used for gene detection of proband, and Sanger sequencing was performed in 20 family members including the proband.The pathogenicity of the mutation sites was analyzed according to ACMG guidelines.This study adhered to the Declaration of Helsinki.The study protocol was approved by an Ethics Committee of Affiliated Hospital of Guizhou Medical University (No.2019-296). Written informed consent was obtained from each subject.Results:The preoperative BCVA of the nine eyes (5 patients) remained 0.1 to 0.2 in 6 eyes, and counting fingers to 50 cm in 3 eyes, and the mean value of preoperative IOP was (15.18±1.32) mmHg (1 mmHg=0.133 kPa). Cotton-wool like opacity in the vitreous and white pedal disc punctate granule on the posterior lens capsule were seen in the 9 eyes under the slit lamp microscope.Vitreous specimens of patients were Congo red stain positive.The BCVA remained 0.8 in 8 eyes and 0.6 in 1 eye at 1 week after vitrectomy, and remained 0.8 in 6 eyes, 0.6 in 2 eyes and light perception in 1 eye at 6 months after surgery.Mean values of postoperative IOP were (15.32±2.11) mmHg and (16.13±1.25) mmHg at 1 week and 6 months after surgery, respectively.Secondary glaucoma occurred in 8 eyes at 3 to 14 years postoperatively.Mean BCVA of the 13 phenotypic normal family members (26 eyes) remained 0.8 to 1.0, and the mean value of IOP was (15.52±1.15) mmHg, and abnormalities were not found in anterior segment or fundus.Additionally, two members (4 eyes) failed to take examinations.Genetic testing revealed heterozygous mutation in p. Gly103Arg of TTR gene in 15 family members.According to ACMG guidelines, the variation score was PS1+ PM2+ PP3, and it was likely pathogenic. Conclusions:The secondary glaucoma is of relatively high incidence in patients with FVA after vitrectomy.The heterozygous mutation of TTR gene (p.Gly103Arg) might be the variation site of the family with vitreous amyloidosis.

AIM: To investigate the clinical efficacy of pars plana vitrectomy(PPV)combined with fovea-sparing internal limiting membrane(ILM)peeling and silicone oil(SO)tamponade for treating pathological myopic foveoschisis(PMF).METHODS:This study is a retrospective observational analysis of 10 cases(10 eyes)diagnosed with PMF that underwent PPV with fovea-sparing ILM peeling and SO tamponade between January 2023 and November 2024. The best-corrected visual acuity(BCVA), central foveal thickness(CFT), foveoschisis(FS), and the detachment and reattachment of FS and macular fovea were assessed preoperatively and at 1 wk, 1 and 3 mo postoperatively.RESULTS:Among the 10 cases of PMF patients(10 eyes), the complete reattachment rate was 30%(3 eyes), while partial reattachment was observed in 70%(7 eyes). At 3 mo postoperatively, BCVA(LogMAR)was significantly improved to 0.957±0.393 compared with 1.432±0.509 before surgery(P<0.05), and both CFT(437.9±180.4 vs. 207.5±76.1 μm)and FS(686.5±172.2 vs. 290.7±86.6 μm)showed significant decreases(P<0.05). No complications such as macular hole, retinal detachment, silicone oil emulsification, or endophthalmitis were observed during the surgery or throughout the follow-up period.CONCLUSION:PPV with SO tamponade and fovea-sparing ILM peeling has been demonstrated to facilitate both visual acuity improvement and anatomical reattachment in cases of PMF.

This study reported a family of mitochondrial diabetes mellitus complicated with chronic hereditary pancreatitis. A 18-year-old woman presented with self-reported hyperglycemia and chronic epigastric pain was admitted to our hospital. Clinical data and family history were collected. Mitochondrial gene sequencing and whole exon gene sequencing showed that the proband carried mutation of mt.3243A>G and heterozygous mutation of SPINK1 c. 194+ 2T>C, which was considered as mitochondrial diabetes mellitus with chronic pancreatitis.