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)
ObjectiveTo explore the light response, retinal inflammation and apoptosis of the retinal ganglion cells (RGCs) 1 year after the new type of channelrhodopsin PsCatCh2.0 was transfected into the retina of rd1 mice. MethodsTwenty-four male rd1 mice were randomly divided into rd1 experimental group and rd1 control group, 12 mice in each group. 1.5 μl of recombinant adeno-associated virus (rAAV)2/2-cytomegalovirus (CMV)-PsCatCh2.0-enhanced green fluorescent protein (EGFP) was injected into the vitreous cavity 1 mm below the corneoscleral limbus of mice in the rd1 experimental group, and the same dose of recombinant virus was injected 2 weeks later at temporal side 1 mm below the corneoscleral limbus. One year after virus injection, the light response of RGCs expressing PsCatCh2.0 was recorded by patch clamp technique; the expression of PsCatCh2.0 in the retina was evaluated by immunofluorescence staining; the transfection efficiency of recombinant virus was evaluated by the transfection efficiency of virus and the number of RGCs. Hematoxylin-eosin staining was performed to measure the inner retinal thickness. Western blotting was used to detect the protein expression of nuclear factor (NF)-κB p65 in retina; real-time quantitative polymerase chain reaction was used to detect the relative expression of tumor necrosis factor (TNF)-α, interleukin (IL)-6 and Bax mRNA. Terminal deoxynucleotidyl transferase kit was used to observe the apoptosis of retinal cells in each group of mice. ResultsOne year after the intravitreal injection of recombinant virus, PsCatCh2.0-expressing RGCs can still generate 30 pA photocurrent. The virus PsCatCh2.0-EGFP was mainly transfected into RGCs, and partly transfected into amacrine cells, almost no transfection was seen in bipolar and horizontal cells. There were no significant differences in the number of RGCs and thickness of the inner retina between the rd1 experimental group and the rd1 control group (F=14.35, 0.05; P＞0.05), while the rd1 experimental group NF-κB p65 protein expression, TNF-α and IL-6 mRNA quantification were significantly lower than those of rd1 control group (F=4.61, 5.91, 5.78; P＜0.05). The number of red fluorescent apoptotic cells in the retina of mice in the rd1 experimental group was less than that in the rd1 control group, and the Bax mRNA expression was lower than that in the rd1 control group, and the difference was statistically significant (F=7.52, P＜0.01). ConclusionOne year after intravitreal injection of recombinant virus, the PsCatCh2.0 expressing RGCs can still generate photocurrent. Long term transfection and expression of PsCatCh2.0 has no obvious cytotoxic effect on RGCs, nor it increases the inflammatory effect of the retina of rd1 mice with retinal degeneration.
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 observe the changes of intraocular pressure (IOP) after intravitreous injection wih triamcinolone acetonide (TA) and their affected factors. Methods The clinical data of 125 patients (125eyes) who had undergone intravitreous injection with TA were retrospectively analyzed. The patients (52 males and 73 females) aged from 17 to 83 years with the average age of 56.5. There were 49 patient (39.2%) with diabetic retinopathy (DR), 56 (44.8%) with retinal vein occlusion (RVO), and 20 (16.0%) with exudative age-related macular degeneration (AMD). One day before the treatment, IOP was measured by Goldmann applanation tonometry, and the basic IOP was 7~31 mm Hg (1 mm Hg=0.133 kPa) and the average IOP was (14.69plusmn;3.72) mm Hg. The patients were divided into two groups according to the basic IOP:below 15 mm Hg group (n=64) and 15 mm Hg or above group (n=61). All of the patients underwent intravitreous injection with 4mg TA. IOP was measured 1 day, 3 days, 1 week, 2 weeks, and 1 month after the treatment in the same way, respectively, and later was measured once every 1 month. The follow-up period was 3~21 months with the mean of 5 months. The elevation of IOP would be defined as the pressure of 21mmHg or higher. The changes of IOP in patients before and after the treatment, and with different diseases and ages were analyzed. Results Thirty-six patients (28.8%) had elevation of IOP after the treatment, out of whom 97.2% had the elevation within 3 months after the injection and decreased to the basic level 7 months after the injection. In these patients, there were 11 (17.19%) in the below 15 mm Hg group and 25 (40.98%) in 15 mm Hg or above group, and the difference between the two groups was statistically significant (P＜0.01）. During the followup period, the mean maximum IOP was (20.09plusmn;7.58) mmHg, which was 5.43 mmHg higher than that before the treatment（P＜0.001）. The mean maximum IOP of 53 patients (42.4%) after the treatment was 5 mm Hg higher than that before the treatment. The mean maximum IOP during the followup period was （18.19plusmn;4.73）mmHg in DR group，（22.50plusmn;9.30）mmHg in RVO group, and（18.12plusmn;6.09）mmHg in AMD group. The occurrence of the elevation of IOP in RVO group was obviously higher than that in the other 2 groups (P＜0.01）. The result of regression analysis showed that age was correlative with the elevation of IOP after the treatment: more risks of occurrence of high IOP were found in younger patients (P=0.000). Conclusion Elevation of IOP after intravitreous injection with TA is common, which is correlative with the basic IOP, age, and pathogeny. After the intravitreous injection with TA, the elevation of IOP often occurs in patients with high basic IOP before treatment, younger age, and RVO. (Chin J Ocul Fundus Dis, 2007, 23: 115-117)
Inherited retinal diseases (IRDs) are a group of severe retinal degenerative diseases leading to permanent visual impairment. IRDs are the major cause of irreversible blindness in children and working age groups. Gene therapy is a new clinical treatment method and currently the only clear and effective treatment for IRDs, while, there are still risks in clinical research and application. How to standardize perioperative management and reduce the potential risks of treatment is one of the keys to ensure the safety and effectiveness of treatment. However, there is no systematic and standardized guidance on the perioperative management for IRDs gene therapy. Therefore, in order to standardize the perioperative management, the Fundus Disease Group of Ophthalmology Society of Chinese Medical Association and Chinese Medical Doctor Association organized domestic experts to put forward standardized opinions on the perioperative management of IRDs gene therapy in China after repeated discussion and combined with domestic and foreign research experience, so as to provide clinicians with reference and application in clinical research and practice.
Ocular ischemic syndrome (OIS) is a disease seen in cardiology, ophthalmology, neurology, and neurosurgery, which can lead to brain and ocular symptoms induced by carotid artery obstruction or stenosis. In local and general manifestation, ocular symptoms usually appear first. Ocular symptoms show the prewarning effect of other ischemic damage. Ophthalmologists should pay attention to the clinical manifestation and damages of OIS. The establishment of multidisciplinary diagnosis and treatment patterns for OIS is a pivotal issue for several disciplines.
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.
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.
Objective To evaluate the diagnostic value of panoramic 200 scanning laser ophthalmoscope for retinal detachment. Method Images of ocular fundus of the patients with retinal detachment were obtained by panoramic 200 scanning laser ophthalmoscopy, which were compared with the results of binocular indirect ophthalmoscopy (BIO). The extent of the retinal detachment, the occurrence of retinal hole or not, and the proliferation were observed. Any discrepancies of the results of the two methods were then analyzed. Results In the images from 75 eyes of 71 patients with retinal detachments which were obtained by panoramic 200 scanning laser ophthalmoscopy, recurrent retinal detachments was found in 3 patients (3 eyes), single retinal detachment was in 13 patients (16 eyes) inc luding intercurrent retinal cyst in 1 patient (1 eye), intercurrent retinal hole was in 43 patients (43 eyes), and intercurrent pre-or sub-retinal proliferation was in 14 patients (15 eyes) (4 eyes having retinal hole simultaneously). The results of panoramic 200 scanning laser ophthalmoscopy and BIO were accordant in 53 patients (56 eyes) and inconsistent in 18 patients (19 eyes) due to the loss of peripheral small retinal holes by panoramic 200 scanning laser ophthalm oscopy. The results of the follow-up examination of 16 patients were accordant with the clinical records. Conclusion Panoramic 200 scanning laser ophthalmoscope has the advantages of non-mydriasis, speediness, and wide view field, and can save external records and provide high-resolution images; it is a valuable diagnosis method for retinal detachment. (Chin J Ocul Fundus Dis, 2006, 22: 317-320)
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.