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Objective:To investigate the clinical characteristics of two Han families with familial vitreous amyloidosis (FVA) and the gene mutation.Methods:A pedigree investigation was performed.Two Han Chinese families with FVA treated in Xiangya Hospital of Central South University from January 2015 to December 2018 were collected.General examination and ophthalmic examination were performed among 112 members of the two families.Peripheral blood samples were collected from 32 family members (15 patients in MZ001 pedigree, 7 patients in MZ002 pedigree, and 5 persons with normal clinical phenotype from each pedigree) for DNA extraction, polymerase chain reaction (PCR) amplification, transthyretin ( TTR) gene screening and sequencing.Vitreous biopsy following three-channel 23-gauge pars plana vitrectomy was performed on the two probands in the two families.Vitreous specimens were sent for pathological examination.This study adhered to the Declaration of Helsinki.The study protocol was approved by an Ethics Committee of Xiangya Hospital of Central South University (No.201412463), and written informed consent was obtained from all subjects before any medical examination. Results:In MZ001, there were 15 cases of the 63 members presented bilateral vitreous opacity at an average age of (43.6±5.8) years.No lesion was found in nervous system, cardiovascular system, kidney or liver in general inspection.The vitreous of the proband (Ⅲ13) was so sticky that could not be totally removed during vitrectomy.The vitreous specimen showed positive Congo red staining.Ⅲ13 had elevated intraocular pressure after vitrectomy and was diagnosed as open-angle glaucoma.Gene sequencing revealed Gly83Arg mutation in the exon 3 of TTR gene.In MZ002, 7 cases of 49 members had bilateral vitreous opacity at an average age of (50.4±5.5) years, among which, 3 cases appeared symptoms of limb numbness and decreased muscle strength.The vitreous body of the proband (Ⅱ11) in MZ002 pedigree was looser and easier to remove during vitrectomy than that of Ⅲ13 in MZ001 pedigree.Vitreous specimen of Ⅱ11 was positive with Congo red staining.Gene sequencing revealed an Ala36Pro variant in the exon 3 of TTR gene. Conclusions:Gly83Arg or Ala36Pro mutation of TTR gene can cause FVA.Different mutations can lead to different clinical phenotypes such as age of onset, clinical symptoms and complications of other systems.
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Objective To evaluate the efficacy and safety of 27-gauge sutureless vitrectomy with air tamponade for rhegmatogenous retinal detachment (RRD).Methods The clinical data of 35 consecutive eyes with primary RRD from 35 patients who received 27-gauge vitrectomy with intraocular air tamponade in Zhongshan Eye Center from April 2016 to January 2017 were retrospectively analyzed.The mean follow-up duration was 8.6 months.Best corrected visual acuity (BCVA) (LogMAR) and intraocular pressure (IOP) were examined before surgery,1 week and 3 months after surgery.The operative duration,sclerotomy sites,retinal reattachment rate,intraoperative and postoperative complications were recorded.Results The mean duration of vitreous removal was (15.3 ± 3.6) minutes,and the mean duration of operation was (34.5 ± 4.8) minutes.No suturing process was performed at sclerotomy sites in all eyes.The retinal reattachment rate following a single procedure was 100％.The mean BCVA was significantly different among before surgery,1 week and 3 months after surgery (F =64.12,P＜0.01),and the BCVA at 1 week and 3 months after surgery was evidently improved in comparison with before surgery (0.82±0.31 vs.1.01 ±0.40;0.68±0.30 vs.1.01 ±0.40) (both at P＜0.05).The mean IOP was (14.69±3.66),(17.37±2.32) and (16.69±2.45) mmHg (1 mmHg =0.133 kPa) before surgery,1 week and 3 months after surgery,showing a significant difference among them (F=14.82,P＜0.01),and the IOP 1 week and 3 months after surgery was evidently higher than that before surgery (both at P＜0.05).The complications included intraoperative iatrogenic retinal breaks in 2 eyes,postoperative hypotony in 1 eye and hypertension in 5 eyes.These complications were curable.Conclusions 27-Gauge vitrectomy and air tamponade for RRD is an effective and safe approach.
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@#ObjectiveTo study the effect of comprehensive treatment on lumbar interveretebral disc syndrome.Methods227 patients with lumbar interveretebral disc syndrome were randomized into two groups. Control group(127 patients) only accepted lumbar vertebra traction, while treatment group(100 patients) accepted comprehensive treatment, including lumbar vertebra traction, hot magnet, Maitland manipulation, and Mckeizie back muscles train. ResultsEffect of treatment group was obviously better than control group (P<0.05). Conclusions Comprehensive treatment on lumbar interveretebral disc syndrome can get better effect than simply traction.