ObjectiveTo observe the clinical manifestations of a Wagner syndrome (WS) family. MethodsA retrospective clinical study. Four patients (the proband, his father, sister, and brother) and one family member (the proband's mother) from a WS family diagnosed by clinical examination in Chengdu Aidi Eye Hospital in June 2023 were included in the study. The proband's medical history was examined in detail, followed by best corrected visual acuity (BCVA), fundus color photography, optical coherence tomography (OCT), and OCT angiography (OCTA). The proband underwent full field electroretinogram (ERG) examination. The proband and his sister and brother underwent blood glucose, blood pressure, hearing, face, joint, exercise and general physical examination at the same time. Peripheral venous blood was collected from the proband and 4 other family members. The proband extracts genomic DNA samples, conducts target region capture, library construction and high-throughput sequencing after qualified quality control. The suspected pathogenic mutation sites were verified by Sanger. According to the selected mutation sites, other family members in this family were co-isolated and verified. The pathogenicity of the mutation site was analyzed using the guidelines of the American College of Medical Genetics and Genomics (ACMG). ResultsProband (Ⅱ-1) was 23 years old female. Both eyes BCVA were 0.1. The waveforms of ERG in both eyes were basically normal, and some amplitudes were reduced. Sister of the proband (Ⅱ-2) was 20 years old. Both eyes BCVA 1.0. Fundus examination showed no obvious abnormality. Brother of the proband (Ⅱ-3) was 19 years old. The left eye underwent pars plana vitrectomy combined with silicone oil filling 2 years ago due to retinal detachment and severe vitreous hyperplasia. BCVA light sensitivity, complicated cataract, and fundus opacity were observed. Right eye BCVA was 0.1. The lenses of the proband and his younger sister and brother (Ⅱ-1-3) were pointed and wedged, and the younger brother was heavier. Vitreous cavity of lens. The retina color of both eyes and the right eye of the younger brother of the protor was dark, with flaky dark areas on the side of the nose and the posterior pole, and the symmetrical retinal veil membrane hyperplasia and pulling on the periphery, showing small retinal splits. The choroidal retina showed focal and segmental symmetrically large atrophy. The optic disc is tilted. By OCT examination, the ellipsoid band was partially missing and broken, and the thickness of the choroid layer was reduced. Retinal cortical atrophy in 1 eye (younger brother of proband). By OCTA examination, the mesovascular layer of choroid was atrophied seriously and the blood density decreased. The results of laboratory and general examination of the three siblings showed no obvious abnormalities. The results of genetic testing showed that the proband (Ⅱ-1), his father (Ⅱ-1), his sister (Ⅱ-2) and his brother (Ⅱ-3) carried a heterozygous mutation of the VCAN gene c.9264A>G (p.Pro3088=). According to ACMG guidelines, the pathogenicity of this variant is unknown. The mother was wild type. ConclusionsThe abnormal manifestations of WS eyes are diverse, and both anterior and posterior segments could be involved. The pathogenicity of the heterozygous variation of VCAN gene c.9264A>G (P.RO3088 =) in this family is unknown.
Eighteen SD rats with streptozotocin-induced diabetes were observed for the influence of magnesium in glycolytic pathway in their retinal tissue.The diabetic rats were divided into 3 groups:6 of them drank 0.5% Mgso4 solution every day,6 received intramuscular Mgso4 (0.05/kg)in half month interval,and the another 6 drank tape water every day.Six normal rats were employed as employed as nondiabetic control.The activity of the three crucial rate-limiting enzymes ralating to glycolytic pathway-hexokinase,phosphofructokinase and pyruvate kinase in retinal tissue of the rats was investigated after a period of 30days.The results revealed that the levels of the enzymes were significantly depressed in diabetic rats not taking magnesium,while the enzyme levels maintained nearly the same in diabetic rats taking magnesium,while the enzyme levels maintained nearly the same in diabetic rats taking magnesium as in the control group.This suggested that the glycolytic pathway in retinal tissue was disturbed in early stage of diabtes,and magnesium might play an important role in maintaining the normal metabolism of glucose. （Chin J Ocul Fundus Dis,1993,9:81-83）
Tweenty-one SD rats with streptozotocin-induced diabetes were investigated for the influence of magnesium in cAMP level in the retina of the diabetic rats. The diabetic rats were divided into 3 groups: group 1, drinking tap hehwater; group 2, drinking 0.5% MgSO4 solution and group 3, receiving intramuscular MgSO4(0.1g/kg) once a month. In addition, group 4, a controlgroup of normal nondiabetic rats fed with tap water. In aperiod of 5 months examination, the growth and health conditions of diabetic rats were found to be nearly normal in group 2, 3 and 4, manifested by gaining weight and soft, smooth hairs on the skin, in contrast with loss in weight, rough hairs and even dying of infection in 2 of the diabetic rats in group 1. furthermore, the level of cAMP content in retina was found significantly higher in the diabetic rats taking Mg++ in spite of the route of administration(group 2, 3), as well as in the control group(group 4) than that of the diabetic rats which were fed with tap water. These results demonstrated that Mg++ might play an important role in improving the metabolism of diabetic rats including the retinal tissue by influencing the level of cAMP content, which is necessary in nuclear acid metabolism, protein synthesis, proliferation and differentiation, and other intracellular metabolic processes. （Chin J Ocul Fundus Dis,1992,8:141-143）
The retina of SD rats was incubated in four types of the Eagle solution respectively. The results showed the cAMP level of retinas was the lowest in the hGnMg(high glucose with normal magnesium) solution but the cAMP level was significantly increased in the hGhMg(high glucose with high magnesium) and higher than that of normal control group. The cAMP level was the highest in the nGhMg(normal glucose with high magnesium). The results suggested that magnesium might play an important role in maintaining the normal metabolism of glucose of the retinal tissue. （Chin J Ocul Fundus Dis,1992,8:138-140）
ObjectiveTo analyze the clinical efficacy of scleral buckling surgery for rhegmatogenous retinal detachment (RRD) of 376 patients.MethodsA retrospective analysis was performed about 376 patients (391 eyes) who underwent scleral buckling surgery in Chengdu Aidi Eye Hospital from January 2018 to December 2019. There were 214 males (224 eyes) and 162 females (167 eyes). There were 15 binocular cases and 361 monocular cases. The average age was 37.16±16.36 years. The average course of disease was 3 months. There were 1 to more than 10 retina holes for all patients. Retinal breaks occur in all quadrants and at ora serrata. The preoperative average BCVA was 0.27 and the postoperative average BCVA was 0.41. Retinal detachment ranges was observed in 268 eyes in 1 quadrant, 97 eyes in 2-3 quadrants, 26 eyes in total, and 231 eyes with macular involvement. There were 376 eyes treated with scleral buckling, 9 eyes treated with scleral buckling combined with scleral encircling, 6 eyes treated with scleral encircling. The average follow-up time was 5 months. Postoperative follow-up was conducted to observe retinal reduction, BCVA, complications and patient compliance.ResultsAfter the first operation, retinal reattachmnents were successfully achieved in 375 eyes (95.91%); 16 eyes (4.09%) failed in retinal reattachmnents. Eight eyes were treated with scleral buckling again, 5 eyes were treated with vitrectomy silicone oil filling, and 3 eyes were treated with air injection. After the second operation, retinal reattachmnents were ultimately achieved in 16 eyes (100.00%). The average BCVA after operation was 0.15. Postoperative intraocular pressure increased by 45 eyes (11.51%). The intraocular pressure increased from the next day to 3 days after operation. The intraocular pressure was completely controlled 1-3 days after the treatment of topical medication and 20% mannitol. Vitreous and subretinal hemorrhage in 1 eye caused by drainage of the subscleral liquid. There was no cases withpostoperative infection.ConclusionThe retinal reattachment rate is 95.91% in 376 patients with RRD treated by scleral buckling surgery, and the visual acuity has significantly improved.