Objective To investigate the clinical characteristics of retinal degeneration (RD) with retinal holes and the therapeutic effect of argon laser therapy. Methods The data of argon laser therapy in 210 RD patients (224 eyes) with retinal holes who underwent the treatment in our department were retrospectively analyzed, which was compared with the data of argon laser therapy in 173 RD patients (198 eyes) without retinal holes. Results In RD patients with retinal holes, 89.7% of the patients were less than 60 years old (53.3% males and 46.7% females). Grid-like degeneration was found in 65.6% of the patients in whom 87.5% had the range of degeneration less than 1 quardrant. There were oval-shaped holes in 60.7% of the patients and accompanied with limited rhegmatogenous retinal detachment (LRRD) in 23.7%. Compared with RD patients without retinal holes, the ratio of patients with the age ofge;35 years, cystic degeneration, retinal lengthways small plica, and subjective symptoms was higher in RD patients with retinal holes; while the therapeutic effect of argon laser therapy on patients with LRRD was obviously less than whom without retinal holes (Plt;0.01 ). Conclusions RD with retinal holes often occurs in youth, most of whom have grid-like degeneration with the range of le;1 qua drant. The major types of retinal holes are oval-shaped degeneration without retinal detachment. There was no sex difference in RD patients with retinal holes and most of the patients have no subjective symptoms. The therapeutic effect of prophylactic argon laser therapy on RD patients with retinal holes but no retinal detachment is satisfying. (Chin J Ocul Fundus Dis, 2006, 22: 39-41)
Objective To determine the effects of lensspecific overexpression of OSM on the eye development. Methods A truncated mouse OSM c DNA (661 bp) was linked to the αA-crystallin promoter. Transgenic mice were characterized by routine histological and immunohistochemical techiniques. TUNEL assays were used to de tect cell death. The mRNA expression of caspase-3 was detected by in situhybridization, Rabbit anti-cleavage caspase-3 antibody was used to detectactive capase-3. Results At embryonic day (E) 14.5 and 17.5, expression of the OSM transgenic protein was detected specifically in lens fiber cells. The onset of retinal degeneration in the mid portion of the transgenic retinae was observed started from E17.5. By the time of birth 50% or more of the retinal cells were missing. The OSM transgenic retinal cells underwent apoptosis indicated by TUNEL assays. Most strikingly, activation of caspase-3 protein were observed throughout the transgenic retinas. Conclusions Lens-specific overexpression of OSM activate caspase-3, leading to abnormal eye development,apoptosis and widespread retinal degeneration. (Chin J Ocul Fundus Dis，2003，19：201-268)
ObjectiveTo observe the effect of lysophosphatidylcholine acyltransferase-1 (LPCAT1) deficiency on the structure and electrophysiology of the murine retina. MethodsRd11 mice (Lpcat1 homozygous mutant, n=60) and wild-type C57BL/6J mice (n=60) were used in this study. Immunohistochemistry was performed to determine the expression of LPCAT1 in the mouse retina. Retinas of rd11 mice and age-matched control mice at postnatal 3, 6, 9-day and 2, 4, 6, 8-week were paraffin embedded,sectioned and hematoxylin eosin stained, and full-field electroretinograms (F-ERG) were also recorded at these time points. Statistics were based on independent samples t-test. ResultsLPCAT1 was absent in rd11 mice retina. In wild-type C57BL/6J mice retina, LPCAT1 was expressed most strongly in the inner segment of photoreceptor cells, weak in the ganglion cell layer. Rd11 mouse exhibited retinal degeneration and eventual photoreceptor cell loss. Retinas of rd11 mice showed nearly half of the photoreceptor cells missing around postnatal week 4,and by 6-week after birth only two layers of nuclei remained. At postnatal week 8,nearly all photoreceptor cells were lost. Dark-adapted F-ERG showed reduced rod-driven response at 2 and 4 weeks of age, which was flattened by 6 and 8 weeks of age. By 2 weeks of age, no significant difference was found in b-wave amplitude between rd11 eyes [(72.8±15.6) μV] and C57BL/6J eyes [(105.2±21.1) μV] (t=-2.760, P=0.025). Compared with age-matched control mice [(231.8±32.0)μV], rod response of rd11 mice [(20.6±6.4) μV] decreased obviously at postnatal week 4 (t=-14.471, P=0.000). Cone response was nearly normal at 2 and 4 weeks of age but substantially reduced at 6 weeks of age, which was flattened by 8 weeks of age. At 2 and 4 weeks after birth, no significant difference was found in b-wave amplitude between rd11 eyes [(46.8±7.2), (78.0±8.2) μV] and C57BL/6J eyes [(42.8±6.4), (91.4±9.4) μV] (t=0.930, -2.401; P=0.379, 0.043). Compared with age-matched control mice [(116.2±12.9) μV], cone response of rd11 mice [(17.2±2.0) μV] decreased obviously at postnatal week 6 (t=-17.008, P=0.000). ConclusionThe layers of photoreceptor cells nuclei in rd11 mice decreases with age, and its F-ERG reflection is unusual.
ObjectiveTo observe the histopathological changes in peripheral retinal lesions under intraoperative optical coherence tomography (iOCT). Methods A retrospective case series study. Eighty-eight patients (194 eyes) who underwent vitreoretinal surgery in the Department of Ophthalmology at the East Ward of the First Affiliated Hospital of Zhengzhou University from October 2021 to May 2022 in 94 eyes were included in the study. Among them, 49 cases were male and 39 cases were female, with the mean age of (50.93±17.55) years. Ninety-four eyes included 32 eyes with retinal detachment, 6 eyes with proliferative diabetic retinopathy, 28 eyes with vitreous hemorrhage, 8 eyes with ocular trauma, 14 eyes with the macular lesion, 1 eye with uveitis, 1 eye with family exudative vitreoretinopathy (FEVR), 1 eye with acute retinal necrosis (ARN), and 3 eyes with lens dislocation. All affected eyes were examined with iOCT during vitreoretinal surgery. The iOCT scanning of the peripheral retina was performed with the help of episcleral pressure. The pre-equatorial and serrated edge anterior and posterior of retinas were scanned according to the characteristics of different fundus diseases. Various abnormal fundus manifestations were recorded. Results In 94 eyes, 53 eyes (56.38%, 53/94) have different types of retinopathy in the peripheral retina. Of these, 7 eyes (7.45%) have retinal cystoid degeneration; 19 eyes (20.21%) have lattice degeneration; and 8 eyes (8.51%) have pigment degeneration; 9 eyes (9.57%) have pavement-like degeneration; 7 eyes (7.45%) have small occult holes; 1 eye (1.06%) has familial exudative vitreoretinopathy (FEVR) serrated edge "dyke-like" proliferative degeneration; 4 eyes (4.26%) have vitreous and retinopathy adhesions; and one eye (1.06%) has ARN. Conclusion With clear refractive media, iOCT can provide clear scans of different peripheral retinal lesions.
Retina is composed of a heterogeneous population of cell types, each with a unique biological function. Even if the same type of cells, due to genetic heterogeneity will lead to cell function differences. In the past, traditional molecular biological methods cannot resolve variations in their functional roles that arise from these differences, and some cells are difficult to define due to the lack of specific molecular markers or the scarcity of numbers, which hindered the understanding and research of these cells. With the development of biotechnology, single-cell RNA sequencing can analyze and resolve differences in single-cell transcriptome expression profiles, characterize intracellular population heterogeneity, identify new and rare cell subtypes, and more definitely define the characteristics of each cell type. It clarifies the origin, function, and variations in cell phenotypes. Other attributes include pinpointing both disease-related characteristics of cell subtypes and specific differential gene expression patterns, to deepen our understanding of the causes and progression of diseases, as well as to aid clinical diagnosis and targeted therapy.
Objective To investigate the clinical manifestations and gene mutation of a pedigree with retinal lattice degeneration and granular corneal dystrophy (GCD) type 2. Methods Ten members in 3 generations of a pedigree with retinal lattice degeneration and GCD2 were included in the study, including 6 patients (3 males and 3 females) and 4 healthy family members. All members underwent visual acuity, slit lamp microscope, three-mirror lens, fundus color photography, optical coherence tomography, and corneal endothelial cells counting. Genomic DNA was extracted from peripheral venous blood (2 ml) from all the subjects and their spouses, who had no related inherited diseases. The next generation sequencing method was used to detect the mutation sites of transforming growth factor β (TGFBI), and all results underwent Sanger verification. Results Among the 12 eyes of 6 patients, the visual acuity was FC/20 cm-1.0. In the superficial central corneal stroma, snowflake-like deposits were observed in three cases (6 eyes), and a small amount of granular deposits were observed in three cases (6 eyes). Corneal endothelial cell counts were normal. Retinal lattice degeneration were observed in 3 cases, 6 eyes (including 3 cases of rhegmatogenous retinal detachment in 4 eyes); retinal thinning without obvious lattice degeneration in 4 eyes of 2 patients. Nystagmus in 1 patient and fundus examination showed no significant abnormalities. DNA sequencing results showed that the proband and 4 patients had missense mutation of TGFBI gene in exon 4 c.371G＞ A, the mutation site corresponding to the amino acid change encoded by TGFBI gene No. 124 Amino acids, from arginine to histidine (p.R124H). Patients with this mutation have varying degrees of clinical phenotype. Conclusions The mutation of c.701G＞ A (p.R124H) in TGFBI gene is the causative gene of GCD in this pedigree. The patients with this mutation have different clinical phenotypes.
Objective To observe the effect of laser photocoagulation of the peripheral retinal holes and/or degeneration in high myopia. Methods Full fundus examination for high myopic patients was made before keratorefractive surgery with binocular indirect ophthalmoscopy.Peripheral holes,degeneration and vitreous traction were found in 206 eyes of 135 patients,and all of them were treated with laser photocoagulation. Results No retinal detachment occurred after keratorefrative operation within 1 year follows up. Conclusions Retinal laser photocoagulation is an effective and safety method before keratorefractive operation for prevention of the retinal detachment in high myopia at least in short-term observation. (Chin J Ocul Fundus Dis, 1999, 15: 135-136)
ObjectiveTo determine the signal pathway of specifically expressed oncostatin M(OSM) in lens inducing retinal degeneration in transgenic mice.MethodsA sequence-truncated OSM cDNA (661 bp) of mice was linked to αA-crytallin promoter, and was micro-injected into unicellular embryo to set up the model of transgenic mice. Reversal transcription-polymerase chain reaction (RT-PCR) was used to detect the mRNA expression of gp130/OSMRβ receptor in the retinae of OSM transgenic and non-transgenic mice. Rabbit anti-phosphorylated STAT-3 antibody was used to detect the protein expression of phosphorylated STAT-3，and mouse anti-cytochrome C antibody was used to detect the distributing of cytochrome C in retinae. ResultsExpression of gp130/OSMRβmRNA was found in retina of non-transgenic mice. At the 17.5th day in the embryonic stage, significant accumulation of the phosphorylated STAT-3 was detected in the retinal nucleolus in OSM transgenic retina. At the first day after birth, intensive staining of cytochrome C in OSM transgenic retina was found. Conclusionsspecifically expressed OSM in lens may act on gp130/OSMRβ receptor in retinae, activate STAT-3, and cause the release of cytochrome C from mitochondria, which eventually induces widespread retinal degeneration.(Chin J Ocul Fundus Dis, 2005,21:167-169)
Inherited retinal degenerations (IRD) are a group of diseases with high genetic heterogeneity and differences in inheritance patterns, age of onset and severity of visual dysfunction. It is one of the leading causes of blindness. In recent years, gene therapy becomes a popular research area in the treatment of genetic diseases due to the rapid development of gene diagnosis technology. Several clinical trials worldwide have proved the safety and effectiveness of gene therapies in IRD. Clinical application of adeno-associated virus -mediated gene therapies for Leber congenital amaurosis and choroideremia clinical trials indicate that patients' retinal functions were improved at different levels after treatment. There are a number of other IRD clinical trials ongoing currently, which bring new possibilities to treat IRD. This article reviews the pathogenesis of IRD, gene vectors and clinical trials in IRD.
Objective Molecular cloning of rat retinal degeneration slow(RDS)gene cDNA. Methods Using PolyA+RNA from retina of SD rat as template,a 1555bp positive cDNA band was obtained by RT-PCR and subcloned into pBluescriptⅡKS(+) vector.The cloned fragment was analyzed with restriction endonucleases and sequencing. Results It had been proved that the cloned fragment was rat RDS/peripherin cDNA.Except for the substitute of A1242G and CA1409-1411CCA,the other sequences corresponded to that reported by Begy. Conclusion Rat RDS/peripherin cDNA was obtained.Researches on function of rat RDS/peripherin gene and its role in retinal degeneration are under way. (Chin J Ocul Fundus Dis,1999,15:97-99)