Objective To observe the fundus characteristics of human immunodeficiency virus with acquired immune deficiency (HIV/AIDS). Methods A total of 1041 HIV/AIDS patients were enrolled in this study. The patients included 882 males (88.70%) and 159 females (11.30%). The patientsprime; ages ranged from 12 to 73 years, with a mean age of 41 years. The median time of HIV/AIDS diagnosis was 12 months, which ranged from one month to 10 years. HIV infection was acquired through sexual contact, intravenous drug use, blood transfusion or mother-to-child transmission in 475 patients (45.63%), 508 patients (48.80%), 44 patients (4.25%) and 14 patients (1.34%), respectively. Ocular examinations (vision acuity, slit lamp microscope and fundus examination) were performed on recruited patients with HIV/AIDS. Additional exams (intraocular pressure, fundus photography and fundus fluorescein angiography) were done if abnormal ocular fundus was found. The ocular manifestations were diagnosed according to clinic reference. Results Ocular manifestations of HIV/AIDS were detected in 247 patients (23.73%). Of 247 patients, the most common ocular manifestation was HIV retinopathy, which was present in 132 patients (53.44%); cytomegalovirus retinitis (CMVR) was second place, affecting 70 participants (28.34%). Clinic findings of HIV retinopathy included retina microaneurysm, hemorrhage along the blood vessel with cotton-wool spots, while irregular dry edge, granular appearing border, were present in CMVR, and the optic nerve may be affected. Fluorescein angiogram of HIV retinopathy demonstrated that hemorrhage was shown as sheltered fluorescence, with b fluorescence without leakage in center of hemorrhage. Fluorescein angiogram of CMVR demonstrated significant hemorrhage appearing as sheltered fluorescence with leakage and/or transparent fluorescence. The optic disk and lesioned area were stained with fluorescence. Conclusions There are various HIV/AIDS related ocular manifestation. HIV retinopathy and CMVR are common ocular manifestations. The main clinical findings of HIV retinopathy are hemorrhage and/or cotton-wool spots, while irregular granular appearing edges and hemorrhage were observed in CMVR.
Objective To observe the fundus characteristics of acquired immune deficiency syndrome (AIDS) with human immunodeficiency virus (HIV) retinopathy. Methods Eighty eyes of 52 AIDS patients with HIV retinopathy were enrolled in this study. The patients included 42 males (67 eyes) and 10 females (13 eyes). The patients ages ranged from 16 to 78 years, with a mean age of (43plusmn;12) years. All patients' visual acuity, intraocular pressure, slit-lamp microscopy and mydriatic indirect ophthalmoscopy, fundus color photography and CD4+ T cell count was documented. Experienced ocular fundus doctors carried out fundus examinations. Retinopathy characteristics were recorded. Seventeen patients (24 eyes) were followed for a period between two days to two years, with a median of 125 days. We failed to follow up the remaining 35 patients (56 eyes) due to death or moving away. Results Among 52 patients (80 eyes), 28 patients (56 eyes, 70.0%) had bilateral HIV retinopathy and 24 patients (24 eyes, 30.0%) had unilateral HIV retinopathy. Cotton-wool spots (CWS), mostly located close to temporal peripapillary vessels, were found in 46 patients (72 eyes, 90.0%). Six patients (eight eyes, 10.0%) were found to have flaming or spotting hemorrhage located in posterior pole. Among 72 eyes with CWS, 57 eyes were found to have CWS only and 15 eyes were found to also have retinal hemorrhage, mostly located near CWS. Among 24 eyes of 17 followed-up patients, three eyes of three patients were found with no significant changes during the less than two week follow-up. In 18 eyes of 11 patients, CWS or hemorrhage disappeared after one to three months without treatment and in five eyes new CWS or hemorrhage were found in other parts of the posterior pole. Three eyes of three patients initially considered as lint plaque-like lesions were eventually detected with CMVR as lesions during one to five months follow-up. Conclusion CWS are the most common ocular lesions in HIV retinopathy.
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)
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)
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)
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)
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)
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.
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 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.