Objective To explore the ocular clinical features in patients with cranial venous sinus thrombosis (CVST). Methods The clinical data from 118 inpatients with CVST diagnosed by digital subtraction angiography (DSA).The patients included 53 males and 65 females with the sexual rate of1 :1.2. The initial onset age of the patients ranged from 15 to 67; 20-45 are the most common onset ages, and 30-40 reached the peak. The CVST patients were divided into 3 groups a c cording to the onset styles, including acute onset (within 2 days), subacute ons et (2 days to 1 month), and chronic onset (more than 1 month). The features of o cular and systemic manifestations was analyzed. A total of 58 out of 118 patient s with CVST were followed up for about 1 year after the diagnosis and treatment. Results Among the 118 patients with CVST, 25 (21.2%) had the ocular symptoms as the initial onset, 36 (305%) had ocular syndrome with other symptoms, and 57 (48.3%) had non ocular symptoms. There was no statistical significance among each group. The most common chief complains were the blurred and decreased vision (in 61 eyes, occupying 85.9% of all the chief complains). The most common symptom was papilloedema (in 57 eyes, accounting for 48.3% of all the patients with CVST). In 58 follow-up patients, 13 (22.4%) had serious visual decrease due to the optic atrophy. All the ocular manifestations related to the intracranial hyper tension caused by CVST. Conclusions In patients with CVST, 1/3 have ocular symptoms, and 1/5 have ocular symptoms as the initial manifestation. Visual decrease and papilloedema are the common symptoms in patients with CVST. We should especially advert to the patients with intracranial hypertension with unknown origins. (Chin J Ocul Fundus,dis,2006,22:373-375)
The human hereditary retinal degeneration is one of the main cause of irreversible blindness in the world. the mechanisms leading to retinal photoreceptor degeneration are not entirely clear. However, microglia acting as innate immune monitors are found to be activated early in retinal degeneration in many retinitis pigmentosa animal models. These activated microglia are involved in phagocyte rod cell fragments of degenerated retina, and also produce high levels of cytotoxic substances such as pro-inflammatory cytokines and chemokines, which aggravate the death of adjacent healthy photoreceptor cells. It suggests that microglia activation plays an important role in photoreceptor degeneration. At the same time, a series of studies have confirmed that some drugs can prevent or reduce neuronal death and slow the occurrence and progression of retinal degeneration by interfering with abnormal activation of microglia. It is expected to be a new choice for the treatment of hereditary retinal degeneration.
Objective To observe the clinical features, phenotypes and genotypes in a Chinese family with choroideremia (CHM). Methods A Chinese four-generation family (15 members) with CHM, including 5 patients (4 males/1 female), 2 female carriers and 8 healthy members, was enrolled in this study. Initially all family members underwent best corrected visual acuity (BCVA), indirect ophthalmoscopy, fundus fluorescein angiography, optical coherence tomography (OCT), visual field and full view electroretinogram (ERG). BCVA was followed up for 3 years. Venous blood samples were collected, and all of the 15 coding exons and flanking intron regions were amplified in the proband by polymerase chain reaction followed by direct sequencing. Protein structure was modeled based on the protein data bank and mutations in DeepView v4.0.1 to predict the effect of the mutations. A total of 180 healthy volunteers were enrolled as control group to matching CHM gene sequences. Results The visual acuity (VA) of 3/4 adult male patients began to decrease at less than 10, 10 and 30 years old, the average BCVA was 0.43. There were characteristic signs and symptoms of CHM including narrow visual field, extinguished rod and cone response in ERG, disappeared junction line and intermediate line of photoreceptor inner segment/outer segment on OCT. After 3 years, the mean BCVA decreased to 0.11. The BCVA of one young male patient was 1.0 in both eyes with minor changes fundus and visual field. The VA of the female patient began to decrease at 50 years old, her BCVA of two eyes were 0.5 and 0.25, respectively. The fundus changes were typical of CHM, with relative scotomas in the peripheral visual field of OD, and big scotomas in the OS. After 3 years, her mean BCVA decreased to 0.2. Of 2 female carriers, one had minor fundus changes (patches of pigmentary deposits, atrophy spots of retinal pigment epithelium cells), and the other was normal. A novel heterozygous c.1837G＞A mutation in exon 15 of CHM was detected in the proband, which resulted in the substitution of serine by proline at codon 613 (p.D613N). Based on molecular modeling, the misfolded protein caused by the mutation might destabilize the structure of the helix that potentially could affect the global stability of the Rep-1 protein. Conclusions A novel c.1837G＞A (p.D613N) mutation may be the causative mutation for CHM in this family. Female CHM carriers may have some signs and symptoms.
OBJECTlVE:To evaluate the value of inhibiting effect of the verapamil(Ver)on human selcral fibroblast (HSF). METHODS:The rate al inhibition of Ver,5-Fu,heparin(Hep)and dexamethasone(Dex)to cultured HSF was respectively determined by MTT method and enzyme linked immunosorbent assay. In addition,the rate of inhibition of Ver associated with 5-Fu Hep and Dex to cultured HSF was respectively determined. RESULTS:The rate of cellular proliferation of cultured HSF was found to be significantly reduced(Plt;0.05),when the concentration of Ver was 20mg/L,and further reduced when 5-Fu,Hep or Dex was added even in smaller dose (5~10mg/L)of Ver. CONCLUSION: Tbe effect of inhibition of cellular proliferation of 5-Fu, Hep and Dex in eye could be enbenced by Ver. （Chin J Ocul Fundus Dis,1996,12: 98-100）
With the perspective of evidence-based medicine, this review aims to investigate the effectiveness and safety of off-label drug use of bevacizumab for eye disease, and explore the barriers to further study. And then, suggestions for the supported evidence and clinical use of off-label drug use will be provided based on this case.
Objective To detect the value of three-dimensional (3D) ultrasound diagnosis in common ocular fundus diseases. Methods Two-dimensional (2D) images of 38 patients with common ocular fundus diseases were three-dimensionally reconstructed via 3D ultrasound workstation. The 3D images reflecting the ocular diseases were analyzed. Result In 38 patients with common ocular fundus diseases, there was vitreous hemorrhage in 16 patients, retinal detachment in 12, choroidal detachment in 5, and intraocular space occupying lesion in 5. Compared with the 2D images, 3D reconstructed images reflect the lesions more intuitionistically, displayed the relationship between the lesions and the peripheral tissues more clearly, and revealed the blood flow more specifically. During a scanning examination, 3D reconstructed technology provided the diagnostic information of section of X, Y and Z axises simultaneously which shortened the time of examination; the condition of any point of lesions and the relation between the lesion and the peripheral tissues could be gotten by the tools like cut and chop provided by 3D imaging software itself, which avoided detecting the same lesion with different angles and lays and proved the diagnostic efficacy. Conclusions 3D ultrasound diagnosis is better than 2D in diagnosis of vitreous, retina, choroid, and intraocular space occupying lesion. 3D ultrasound diagnosis is a complementarity for the 2D one, and the Z axis changes the former observational angles which may provide the new way of precise diagnosis. (Chin J Ocul Fundus Dis, 2005, 21: 381-383)
Rapid development of recently emerging precision medicine techniques represented by gene therapy has brought hope for the treatment of rare blinding eye diseases such as inherited retinal diseases (IRDs) for which there was no effective treatment previously. Although the globally growth of clinical trials for IRDs has increased rapidly over the past decade, due to the highly genetic and clinical phenotypic heterogeneity, as well as limited data on epidemiology and natural history of the disease, along with severe loss of vision function of majority patients for which the established measurements may not be appropriate, such studies lack standard outcome measurements and endpoints to asses clinical meaningful effectiveness, posing great challenges in terms of study design and evaluation of treatment efficacy, as well as clinical practice application. At present, there is no systematic nor standardized guidance on safety measures, clinical outcomes and endpoints of visual function for clinical trial design in IRDs. Therefore, in order to standardize the validated evaluation of IRDs clinical efficacy outcome measurements and endpoints, the Fundus Disease Group of Chinese Medical Association Ophthalmology Branch and Fundus Disease Committee of Chinese Medical Doctor Association Ophthalmology Branch organized domestic experts to put forward consensus and recommendations on standardizing outcome measurements and endpoints for clinical study design in IRDs, aiming to advance the study design of IRDs natural history research and clinical trials and to effectively evaluate disease progression and intervention efficacy. Along with the development of medical science and clinical trials, relevant content will be improved and updated accordingly.
Objective To investigate the clinical characteristic of ocular fundus complications in systemic lupus erythematosus (SLE). Methods In 25 cases of SLE with the ocular fundus complications, the ocular fundus, the other ocular tissues, general lesions，and antinuclear antibody (ANA ), anti-double-stranded DNA（anti-dsDNA）, complement 3 (C3), complement 4 (C4)and erythrocyte sedimentation rate(ESR) were analyzed retrospectively. Results In the 25 cases, “classic” SLE retinopathy in 15 (25 eyes), retinal vein occlusion (RVO) in 9 (12 eyes), RVO combined with retinal arter y occlusion in 1 (2 eyes), exudative retinal detachment in 1 (2 eyes), vitreous hemorrhage combined with neovascular glaucoma in 1 (1 eye), and optic discedem a except RVO in 3 (6 eyes) were found. Nine cases accompanied with other ocular signs and 21 with general lesions. Positive ANA and anti-dsDNA and elevated ESR in all of the patients, decreasing C3 in 19, and C4in 17 were found.Conclusions SLE can cause serious ocular fundus complications accompanied with other ocular signs. Regular ophthalmic examination should be performed on the patients with SLE to detect and treat the ocular complications promptly. (Chin J Ocul Fundus Dis，2004，20：206-208)
ObjectiveTo evaluate macular microvessel changes in familial exudative vitreoretinopathy (FEVR) by optical coherence tomography angiography. MethodsCross-sectional clinical case-control study. From November 2019 to November 2020, 21 FEVR patients (41 eyes) from Weifang Eye Hospital were selected; 17 healthy volunteers (28 eyes) with the same age and gender as FEVR group were selected as normal control group. According to the best corrected visual acuity (BCVA) 1.0 and ＜1.0, FEVR group was divided into normal visual acuity group (27 eyes) and visual acuity decreased group (14 eyes). All enrollees received BCVA and OCTA. BCVA was performed with an international standard visual acuity chart, which was converted to logarithm of the minimum angle of resolution (logMAR) vision. The OCTA instrument was used to scan the macular area of all the examined eyes in the range of 3 mm×3 mm, 6 mm×6 mm, and the blood vessel density (VD) and blood perfusion density (PD) within the range of 3 mm×3 mm, 6 mm×6 mm were measured and the area, circumference, and morphological index of the foveal avascular zone (FAZ) within the range of 6 mm×6 mm. Quantitative data were compared between groups by independent sample t test. Statistical data were compared by χ2 test. The area under curve (AUC) of each index was determined according to receiver operating characteristic curve (ROC curve), and the predictive value of each index was evaluated. ResultsIn the macular area of 6 mm×6 mm, VD, PD, FAZ area and FAZ perimeter of FEVR group were all lower than those of normal control group, and the differences were statistically significant (t=−3.350, −2.387, −3.519, −3.029; P＜0.05). In macular area of 3 mm×3 mm and 6 mm×6 mm, compared with normal vision group and vision loss group, both VD and PD decreased. The differences were statistically significant (t=2.088, 2.114, 2.160, 2.545; P＜0.05). In the macular area of 6 mm×6 mm , the FAZ morphological index of the two groups was significantly different (t=2.409, P＜0.05). ROC curve analysis showed that all the indicators had low diagnostic value for FEVR (AUC＜0.5). ConclusionThere are microvascular abnormalities in macular area in FEVR patients, and the decrease of blood vessels and the change of FAZ shape may be related to the loss of visual acuity.
Inherited retinal diseases (IRD) are a group of genetic disorders with high genetic and clinical heterogeneity. Patients with IRD may have their clinical diagnosis confirmed by genetic testing. Over the past 30 years, rapid advances in molecular genetics have raised the disease-causing gene variant detection rate and the accuracy of genetic testing, which provide hope to patients. The genetic diagnosis of patients with IRD is complicated due to the overlapping clinical phenotypes, and the fact that different variants lead to different phenotypes and severity even of the same gene. It is very important to overall evaluate the clinical phenotype of patients, precisely select genetic testing methods, and reasonably define disease-causing genes and variants during genetic diagnosis, which can guide the patient's subsequent treatment and provide genetic counseling.