Objective To investigate the clinical characteristics and mechanisms of ocular manifestations related to carotid artery stenosis. Methods The general clinic data and related ocular manifestations in 124 patients with carotid artery stenosis were retrospectively. Results In the 124 patients, 36 (29%) had ocular manifestations, and 28 (22. 6 %) complained the ocular discomfort as the first symptom. Among the 36 patients, 31 patients (86.1%) had been disclosed unilateral or double stenosis of internal carotid artery by carotid Doppler ultrasound examination, and the result of digital subtract angiography revealed middle and severe degree of internal carotid artery stenosis in 8 and 23 patients respectively. There was no statistic difference of incidence of ocular manifestations between 67 patients of severe internal carotid artery stenosis and 34 patients with middle one（chi;２test,P =0.266 2，P＞0.05). The ocular manifestations included amaurosis fugax (52.8%),acute decline or loss of the visual ability and defect of visual fields (36.1%), binocular diplopia (13.9%), ptosis (13.9%), and persistent high intraocular pressure(2.8%) one patient might had several ocular manifestations simultaneously. In 36 patients, central retinal artery occlusion had been diagnosed in 4, venous stasis retinopathy in 1,central or branch retinal vein occlusion in 6, neovascular glaucoma in 1, and anterior ischemic opticneuropathy in 2. One patient with double occlusion of internal carotid artery didnrsquo;t have any ocular manifestation. Conclusion Carotid artery stenosis, especially internal carotid artery may lead to acute or chronic ocular ischemic lesions, and the occurrence of ocular manifestations in chronic ocular ischemic lesions relates to compensa tion of collateral circulation；patients with ocular ischemic lesions are recomm end to undergo a routine carotid artery examination. (Chin J Ocul Fundus Dis, 2006,22:376-378)
Polypoidal choroidal vasculopathy (PCV) is a fundus disease characterized by choroidal anomalous branch vascular network and terminal polypoidal dilatation. According to its fundus feature, lesion location, imaging feature and disease progression, PCV can be divided into different types or stages. It can be divided into hemorrhage and exudation PCV according to the fundus features, into macular, peripapillary, periphery and mixed types according to the lesion locations. It can also be divided into type 1 and 2 according to the ICGA (indocyanine green angiography) manifestations, and can be classified as early stage and late stage according to disease progression. There were different correlations between different types of PCV and some risk genetic loci, such as ARMS2 (age-related macular degeneration factor 2)/ HTRA1 (high temperature essential protein A1) , C2, complement factor B, complement factor H, and elastin genes. The response to therapy and prognosis are also different between different types. It is important to further study the clinical classification of PCV, to explore the genetic characteristics, influencing factors and treatment or prognosis features of different types of PCV. The results will improve the differential diagnosis of PCV, and the effectiveness of individualized treatment.
The clinical manifestations of infectious retinal diseases are complicated, especially these result from serious infectious diseases such as acquired immune deficiency syndrome (AIDS), tuberculosis and syphilis infections. It is an important issue to differentiate infectious retinal disease from noninfectious intraocular inflammation in the clinic. It is, therefore, highly desirable to follow a proper steps to reach the correct diagnosis. Complete history review and comprehensive ocular examination remains the first step in diagnosing infectious retinal diseases. Although an array of laboratory and serological tests are available to assist in the diagnosis, some situations may require a diagnostic therapy or a tissue biopsy. Identification of the pathogen and histopathologic examination of the ocular specimen remain to be the gold standard of diagnosis. Initiation a specific and appropriate antimicrobial therapy needs multidisciplinary collaborations including ophthalmologists and infectious specialists. Updated knowledge of general medicine and management of infectious diseases, interdisciplinary collaborations and optimization of treatment processes will improve the diagnosis and treatment of retinal infectious diseases in the future.
ObjectiveTo investigate the relationship of the age-related maculopathy susceptibility 2 (ARMS2) A69S polymorphism and polypoidal choroidal vasculopathy (PCV), and to explore the distribution of risk allele in PCV and exudative age-related macular degeneration (wAMD). MethodsThis is a systemic review and meta-analysis. A literature research was performed in Pubmed, Embase, Web of Knowledge, Chinese national Knowledge Infrastructure and Wanfang Medicine Database by the key words of "ARMS2, LOC387715, A69S, rs10490924, age related macular degeneration, polypoidal choroidal vasculopathy, single nucleotide polymorphism". Case-control studies were included, while review, case report, or systemic reviews were excluded. The latest one of multiple articles was included only which published by the same group. The results of individual studies were pooled using the software Review Manager 5.1.4, and the correlation between allele frequencies, genotype and phenotype were analyzed. ResultsA total of 14 articles, consisting 2007 PCV patients, 1308 wAMD patients and 3286 controls were recruited. The pooled odds ratio (OR) in random-effects models for genotype TT versus wild homozygous genotype GG is 5.20 (95% CI: 3.90-6.95). Heterozygous genotype GT mildly increased the risk in affecting PCV, and the OR of GT versus GG is 1.85 (95% CI: 1.42-2.40. The frequency of T allele in wAMD was higher than in PCV, pool OR=1.60 (95% CI: 1.31-1.96). ConclusionsThe ARMS2 A69S variant is associated with PCV. Genotypes of TT and GT had an effect in increasing the risk of PCV, and the effect is even greater in genotype of TT. T allele had an effect in increasing the risk of PCV and wAMD, and the risk for wAMD is slightly greater than for PCV.
Objective To analyze the BEST1 gene mutations and clinical features in patients with multifocal vitelliform retinopathy (MVR). Methods This is a retrospective case series study. Five MVR families with MVR, including 9 patients and 10 healthy family members were recruited. Clinical evaluations were performed in all MVR patients and their family members, including best-corrected visual acuity (BCVA), intraocular pressure (IOP), refraction, slit-lamp examination, 90 D preset lens examination, gonioscopy, color fundus photography, optical coherence tomography (OCT), fundus autofluorescence (AF), ultrasound biomicroscopy (UBM) and axial length measurement. Electro-oculogram (EOG) was performed in 12 eyes and visual field were performed in 13 eyes. Peripheral blood samples were collected in all subjects to extract genomic DNA. Coding exons and flanking intronic regions of BEST1 were amplified by polymerase chain reaction and analyzed by Sanger sequencing. Results Among the 5 MVR families, 3 probands from three families had family history, including 1 family had autosomal dominant inheritance pattern. Two patients from 2 families were sporadic cases. Screening of BEST1 gene identified four mutations, including three missense mutations (c.140G>T, p.R47L; c.232A>T, p.I78F; c.698C>T, p.P233L) and 1 deletion mutation (c.910_912del, p.D304del). Two mutations (p.R47L and p.I78F) were novel. The BCVA of affected eyes ranged from hand motion to 1.0. The mean IOP was (30.39±11.86) mmHg (1 mmHg=0.133 kPa). The mean refractive diopter was (-0.33±1.68) D. Twelve eyes had angle-closure glaucoma (ACG) and 4 eyes had angle closure (AC). EOG Arden ratio was below 1.55 in all patients. The mean anterior chamber depth was (2.17±0.29) mm. Visual field showed defects varied from paracentral scotoma to diffuse defects. The mean axial length was (21.87±0.63) mm. All MVR patients had multifocal vitelliform lesions in the posterior poles of retina. ACG eyes demonstrated pale optic disc with increased cup-to-disc ratio. OCT showed retinal edema, extensive serous retinal detachment and subretinal hyper-reflective deposits which had high autofluorescence in AF. The genetic testing and clinical examination were normal in 10 family members. Conclusions MVR patients harbored heterozygous mutation in the BEST1 gene. Two novel mutations (p.R47L and p.I78F) were identified. These patients had clinical features of multifocal vitelliform retinopathy and abnormal EOG. Most patients suffered from AC/ACG.
ObjectiveTo reveal the pathogenic mutation in a three-generation Chinese family with autosomal dominant familial exudative vitreoretinopathy (FEVR). MethodsThree patients and a healthy spouse from the index family with FEVR were recruited. The proband was a 5 years old boy. His mother and grandpa were presented with typical FEVR presentations, while his father with normal ocular fundus. DNA was extracted from peripheral blood samples taken from all four participants. All coding and exon-intron boundary regions of five targeted genes, including NDP, FZD4, LRP5, TSPAN12 and ZNF408 were amplified with polymerase chain reaction and sequenced using direct sequencing. In silico analyses were applied to determine the conservation of the mutation site, pathogenic effect and the potential protein crystal structural changes caused by the mutation. ResultsFZD4 c.478G > A, a susceptible mutation was found after four high frequency mutation sites which MAF values were higher than 0.001 was filtered among 5 single nucleotide variations detected in four participants, leading to the residue 160 changing from glutamate to lysine (p.E160K). Co-segregation analysis between genotypes and phenotypes revealed FZD4 p.E160K as the disease-causing mutation for this family. Conservational analysis suggested that this mutation site was highly conserved among all tested species. Functional analysis predicated that this mutation may be a damaging mutation. Crystal structural analysis also indicated that this mutation could lead to the elimination of the hydrogen bond between residue 160 and asparagine at residue 152, thus altering the tertiary structure of the protein and further impairing the protein function. ConclusionOur study demonstrates FZD4 p.E160K as a novel pathogenic mutation for FEVR.
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)
Hypertensive retinopathy (HR) often coexist with carotid lesions in hypertensive patients. Carotid lesions are closely associated with cardiovascular and cerebrovascular diseases, as well as end events, offering early important evidence to screening high risk patients. HR has significant value to predict target organ damage (TOD) of hypertension including carotid lesion. In addition, hypertensive retinopathy and carotid lesions-related ischemic ocular diseases will cause serious vision function damage. This article is going to summarize the value and correlation between hypertensive retinopathy and carotid lesions in terms of clinical manifestations, pathological physiological mechanism and target organ damage.
Retinal macrophages and (or) microglial cells play important roles in regulating inflammation, angiogenesis and tissue repairing, thus affect the development and prognosis of ischemic retinal disease, ocular immune diseases and ocular tumors. Reversing the polarization imbalance of these cells may provide new therapeutic strategies for ischemic retinal disease and ocular immune diseases. The duality of the polarization direction of these cells is still controversial in the inflammatory reaction and pathological angiogenesis of ischemic retinal disease. Meanwhile, the plasticity and diversity of the function need to be further studied and discussed.
Objective To investigate the relationship of clinical indexes between retinopathy in systemic-lupus-erythematosus （SLE）nephritis and SLE，and to discuss its clinical significance. Method The clinical data of 43 cases of SLE nephritis with ocular fundus diseases were retrospectively analyzed.The relationships between retinopathy and kidney defect，general lesions，SLEDAI grade，antinuclear antibody （ANA），anti-double stranded DNA，complement 3 and antiphospholipid antibodies were analyzed with Logistic regression respectively. Results In 86 eyes of the43paitents，there were retinal cotton wool spots in51eyes（59.3%），edema of optic disk in 43 eyes（50.5%），retinal haemorrhage in 12 eyes（14.0%），retinal artery occlusion in 5 eyes（5.8%），central retinal vein occlusion in 2 eyes（2.3%），retinal detachment in 3 eyes（3.5%），optic atrophy in 2 eyes（2.3%），and neovascularization in 2 eyes（2.3%）.Logistic regression analysis revealed that SLEDAI grade had linear dependent relation with cotton wool spots and optic disk edema（chi;2=42.154，6.498;P＜0.001），and didnrsquo;t have any correlation with proteinuria，hematuria and kidney function.Linear relation between retinal vascular occlusion and antiphospholipid antibodies was found（chi;2=24.475，P＜0.001）.Retinal haemorrhages，retinal detachment，optic atrophy and neovascularization did not correlate with clinical features. Conclusion SLEDAI grade had linear dependent relation with cotton wool spots and optic disk edema in patients with SLE nephritis，and Linear relation between retinal vascular occlusion and antiphospholipid antibodies is ascertained. Ocular fundus diseases are clinically important for evaluating the therapeutic responses and prognosis in lupus nephritis. (Chin J Ocul Fundus Dis, 2006, 22: 239-241)