Purpose To investigate the expression of the interleukin-6(IL-6)and tumor necrosis factor alpha(TNF-alpha;) in epiretinal membranes(ERM) of eyes with proliferative vitreoretinopathy(PVR). Methods Nineteen epiretinal membranes were obtained form eyes undergoing vitrectomy for retinal detachment complicated with PVR and observed by immunohistochemical methods. Results Expression of IL-6 and TNF-alpha; were observed in 12 and 15 membranes respectively with positive staining mostly in extracellular matrix of epiretinal membranes.Only one membrane showed positive to IL-6 intracellularly,and expression for IL-6 and TNF-alpha; simultaneously in membranes. Conclusion The findings indicate that IL-6、and TNF-alpha;might be involved in the development of PVR. (Chin J Ocul Fundus Dis,1998,14:219-221)
Our previous experiments showed limited results of treatment with daunomycin when given at the inflammatory stage of proliferative vitreoretinopathy(PVR)induced by macrophages in rabbits.In the present study,we observed the inhibition of intraocular cellular proliferation in the same model by daunomycin which was injected in a dosage of 5mu;g 6 days after intravitreal macrophage injection,with 3H-thymidine autoradiography.The efficacy of daunomycin was also compared with that of triamcinolone,and combined triamcinlone and daunomycin.The retinal detachment occurred in 33.3%,16.1%,8.3%and 83.3%(P＜0.01) of the eyes treated with daunomycin,triamcinolone,combined drugs and the control groups,respectively.Autoradiography revealed a singnificantly decreased number of labelled nuclei of proliferative cells on days 7 and 14 in daunomycin-treated eyes(compared to controls,18.8plusmn;3.2 vs 35.7plusmn;3.4;52.1plusmn;8.0 vs 81.3plusmn;14.6，P＜0.01,respectively).Significantly decreased numbers of inflammatory cells and labelled cells were also noted in eyes treated with triamcinolone and combined drugs.The results suggest that daunomycin given at the proliferative stage,and triamcionlone given at the inflammatory stage of PVR,or combined drugs can prevent traction retinal detachment. （Chin J Ocul Fundus Dis,1994,10:229-231）
Objective To study the effects of neonatol rabbit Schwann cells(SC) on repair of optic contusion in adult rabbits. Methods 24 h after the adult rabbit optic nerves was contused,0.1 ml of SC suspension (group A) and saline water (group B) were injected into the vitreous of injured eyes respectively.All the animals were studied by retinal ganglion cell (RGC) and axon counting,flash visual evoked potential (FVEP) tests at various intervals after injury. Results At the 4th week after injury,the number of RGC was (19.89plusmn;3.79)/mm in group A and (12.67plusmn;4.12)/mm in group B,and the density of axons was (94.569plusmn;793)/mm2 in group A and (36.085plusmn;285)/mm2 in group B.There was dramatical difference between group A and B (Plt;0.01).The amplitude of FVEP wave of group A increased from 48% to 88% on the 3rd day after injury,and still dept 78% at the 8th week and group A was significantly higher than group B at various intervals (Plt;0.01). Conclusion SC are effective in promoting the repair of optic nerve contusion by increasing the survival rate of RGC,rescuing axons from degeneration,and dramatically promoting the function of the optic nerve. (Chin J Ocul Fundus Dis,2000,16:91-93)
Objective To identify and observe the pathogenic gene variant and clinical phenotype in a family with Leber congenital amaurosis (LCA). MethodsA retrospective clinical study. Two patients and four family members from one LCA family (type 7), diagnosed via genetic testing at the First Affiliated Hospital of Xi'an Jiaotong University in January 2024 were included. Detailed patient and family histories were collected. All patients underwent examinations including best-corrected visual acuity (BCVA), intraocular pressure, color fundus photography, fundus autofluorescence (FAF), flash visual evoked potential (F-VEP), full-field electroretinography (ff-ERG), and optical coherence tomography (OCT). Family members underwent BCVA and color fundus photography examinations. Peripheral venous blood (5 ml) was collected from the patients and the four family members for genomic DNA extraction. High-throughput sequencing was used to screen for pathogenic gene variants. Identified variants were verified by Sanger sequencing. All variants were classified according to the American College of Medical Genetics and Genomics (ACMG) guidelines. Bioinformatics software including Mutation Taster, Polyphen-2, PROVEAN, and REVEL was used to analyze the pathogenicity of the variants. Results The proband (Ⅱ-2), a 14-year-old female, was born to consanguineous parents (first cousins). Her BCVA was 0.1 in both eyes; intraocular pressure was normal; the anterior segments showed no significant abnormalities. Color fundus photography showed waxy optic discs and a "coin-shaped," "salt-and-pepper" appearance in the retina. FAF revealed large areas of hypoautofluorescence in the macular region. OCT showed shallowing or disappearance of the foveal, disorganized retinal layers, and absence of the ellipsoid zone. F-VEP showed recordable P2 waves with no significant delay in peak time but slightly reduced amplitude. ff-ERG showed significantly reduced or non-detectable amplitudes of the scotopic and photopic a- and b-waves. The proband's elder sister (Ⅱ-1) had similar BCVA and fundus findings. The proband's parents (Ⅰ-1, Ⅰ-2), younger brother (Ⅱ-3), and younger sister (Ⅱ-4) showed no significant ocular phenotypic abnormalities. Genetic testing revealed that the proband and her elder sister were homozygous for the CRX gene variant c.122G>A:p.Arg41Gln. The proband's father, mother, and younger brother were heterozygous carriers of the same CRX variant; the younger sister showed no variation at this locus. Based on the clinical presentation, ff-ERG, and genetic test results, the final diagnosis was LCA type 7. According to ACMG guidelines, the c.122G>A variant was classified as likely pathogenic. Mutation Taster and Polyphen-2 software predicted the variant to be damaging; the REVEL score was 0.929, indicating a likely pathogenic variant. Conclusions The homozygous CRX gene variant c.122G>A:p.Arg41Gln causes autosomal recessive LCA type 7 in this family. LCA is characterized by early onset and severe visual impairment.