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)
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.
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)
ObjectiveTo identify mutations in NDP, FZD4, LRP5, TSPAN12 in Chinese families with familial exudative vitreoretinopathy (FEVR) and observe the clinical features.MethodsRetrospective case series study. The 9 patients (18 eyes) and 5 normal members from 4 unrelated families were included in the study. The patients medical history and family history were collected in detail. All patients underwent best corrected visual acuity (BCVA), slit-lamp biomicroscopy, fundus colorized photography, fundus fluorescein angiography (FFA). Genomic DNA were collected from all the patients. Mutations were detected by directly sequencing to the whole coding region and exon-intron boundaries of NDP, FZD4, LRP5 and TSPAN12 gene. Polyphen and SIFT programs were used to predict the effects on the structure and functional properties of mutant protein.ResultsThere were two affected individuals in the family 2 carried LRP5 gene mutation [c.1330C＞T (p.R444C )] in exon 6 by sequence analysis. A score of 0.882 was acquired by Polyphen program analysis. And the missense change was predicted to be pathogenic by SIFT. Fundus changes of the proband showed angioplasia, tortuosity of peripheral vessels. And temporal dragging of the optic disc, peripheral avascular zone, neovascularization were found in FFA. Brush-like and straight of peripheral vessels were found in Ⅰ1. No variant was found in NDP, FZD4 and TSPAN12 gene.ConclusionOur study supports the gene mutation c.1330C＞T (p.R444C) of LRP5 is pathogenesis of FEVR. Patients with the same mutation could have variable phenotypic characteristics.
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.
Objective To observe the clinical features of systemic lupus erythematosus (SLE) with retinopathy.Methods Ninety-seven SLE patients were enrolled in this comparative clinical study. The patients were divided into retinopathy group (positive group, 32 eyes of 23 patients) and non-retinopathy group (negative group, 148 eyes of 74 patients). The age, course of disease, clinical features, laboratory results in these two groups were comparatively analyzed.Results The positive rate of retinopathy in all SLE patients was 23.7%. Seventeen patients (22 eyes, 73.9%) of positive group had retinal cotton-wool spot, retinal hemorrhage, tortuous retinal vein, retinal arterial spasm, microaneurysm and hard exudates. The other six patients (10 eyes, 26.1%) in this group showed retinal main vessel occlusion. The incidence rate of rash, cutaneous vasculitis, elevated erythrocyte sedimentation rate (ESR), decreased complement C3 and positive anti double stranded-DNA (anti-ds-DNA) antibody in the positive group were higher than those in the negative group (chi;2=9.206, 6.987, 7.824, 8.581, 6.599;P＜0.05). There was no significant difference between these two groups in age, course of disease, mucosal ulcers, arthritis, fever, headache, neutropenia, thrombocytopenia, proteinuria, elevated blood urea nitrogen, increased creatinine, positive antinuclear (ANA) and anti-Sm antibodies (t=0.321, 0.063;chi;2=0.135, 0.046, 0.176, 0.002, 0.036, 0.113, 0.053,0.032,0.012,0.000,0.004;P＞0.05). Conclusions Tortuous retinal veins, retinal cotton-wool spots and retinal main vessels occlusion are the three major fundus features of SLE patient with retinopathy. Rash, cutaneous vasculitis, increased ESR, decreased complement C3 and positive anti-ds-DNA antibody are the five major systemic clinical features of SLE patient with retinopathy.
Ras homolog family (Rho)/ Rho-associated coiled-coil kinase (ROCK) signaling pathway widely exists in human and mammal cells, which is closely related to inhibition of repair after optic nerve damage. The expression level of Rho/ROCK signaling pathway-related proteins is up-regulated in glaucoma, and related with the death of retinal ganglionic cell (RGC) and the axon activity. ROCK inhibitors can protect the surviving RGC and promote axon extension with a dose-dependent manner. ROCK inhibitors also can inhibit glial scar formation, lower intraocular pressure and inhibit inflammatory response to some degrees. Rho/ROCK signaling pathway correlates with the optic nerve disease progression, and ROCK inhibitors hope to become a new therapeutic drug.
Polypoidal choroidal vasculopathy (PCV) is one of the exudative maculopathy, which is characterized by retinal pigment epithelium detachment, subretinal hemorrhages and sensory retinal detachment. The prevalence of polypoidal choroidal vasculopathy (PCV) reached 33.5% in neovascular age related macular degeneration (AMD) for Chinese population. Indocyanine green angiography showed a single or multiple focal nodular areas of hyperfluorescence arising from the choroidal circulation and currently is recognized a gold standard for diagnosis of PCV. The histopathologic findings indicated that hyalinization of choroidal vessels, like arteriosclerosis. Up to now there is no reliable evidence to demonstrate the difference in genetic study. The study of environment factor showed hypertension is associated with PCV closely than with AMD. PCV and AMD is different genotype or different phenotype as well as difference in pathogenesis need further studies.
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.
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.