Purpose To investigate the relationship between mitochondrial DNA 11778 mutation and clinical characteristics of patients with Laber is hereditary optic neuropathy(LHON). Methods PCR RFLPs (MaeⅢ) and mutation specific primer PCR(MSP-PCR) were used simultaneously to detect mitochondrial DNA 11778 mutation. Results Among 10 subjects who habored 11778 mutation,one was a carrier and nine were patients with LHON.Of the nine patients,six were males and three were females.The age of onset ranged from 12 to 25 years old and the onset interval of the two eyed varied between 0 to 6 months. The visual acuity was CF/10cm-0.1 except one who lost her vision after delivery but recovered gradually.The results of visual field,VEP and color vision were abnormal but ERG and systemic status were all normal. Conclusion Molecular biological detection of the ten subjects showed that they all habored mtDNA 11778 mutation.The existence of carrier and visual recovery imlied that mtDNA mutation was a primary cause of LHON,but other factors such as endocrine disorder might influence the pathogenesis of LHON. (Chin J Ocul Fundus Dis,1998,14:156-158)
Objective To observe the characteristics of indocyanine green angiography and fundus fluorescein angiography (ICGA amp; FFA) in anterior ischemic optic neuropathy ( AION ) , and to investigate the etiology of AION and the value of ICGA and FFA in the diagnosis and study of AION. Methods Simultaneous ICGA and FFA were performed on 32 eyes of 31 AION patients and 38 eyes of 38 non-AION patients. Results The eyes that all or a part of the optic disclies in the watershed zon es of the choroidal blood supply were significantly more in the AION group tha n those in the non-AION group (Plt; 0.005 ) . All the watershed zones through the optic disc were vertical in shape. The fluorescence filling of the inferior and superior choroidal blood vessels near the optic disc were all slower than that of the temporal and nasal choroidal blood vessels. The types of watershed zones in the AION group were highly correspondent to the ischemic areas of the optic disc . In early ICGA , no fluorescence appeared at the optic disc, and in later stage, the ischemic area revealed no fluorescence, and the other area showed mostly asymmetric fluorescence. Conclusion The onset of AION is correlative to the choroidal blood supply around the optic disc. ICGA is more valuable in the diagnosis and study of AION than FFA . (Chin J Ocul Fundus Dis, 2001,17:111-114)
Objective To investigate the major types and clinical manifestations of mitochondrial DNA (mtDNA)mutations in Chinese patients with Leber′s hereditary optic neuropathy(LHON). Methods A total of 119 patients with bilateral optic neuropathy from 117 pedigrees, including 37 with determinate diagnosis of LHON(group A) and 82 with suspected LHON(group B),were tested for mtDNA mutations by using single-strand conformational polymorphism, mutation-specific primer polymerase chain reaction and sequencing. Pertinent clinical data and history of the patients with the 11778 mutation were collected. Results Nucleotide positions(np)11778 mutation and np 14484 mutation was found in 33 (89.2%) and 3 (8.1%) patients respectively in group A, while np 11778 mutation was obtained in 26（31.7%）in group B. No 3460 mutation was found in group A or B. The clinical manifestations of 59 patients with np 11778 mutation were as follows: acute or chronic visual loss，no ophthalmalgia, the age of onset of 10-25, and either a central or paracentral scotoma in perimetry. The visual recovery rate was 8.6%～11.6%. Conclusion Chinese patients with LHON have a very high incidence of np 11778 mutation and the clinical manifestations of the patients with np 11778 mutation are similar to those of Caucasian patients. (Chin J Ocul Fundus Dis，2004，20：78-80)
Objective To investigate the spectrum of mitochondrial DNA (mtDNA) mutations in Chinese patients with Leber′s hereditary optic neuropathy (LHON). Methods The primary mtDNA mutations (G3460A、G11778A and T14484 C) of 140 patients with LHON were detected by mutation-specific priming polymerase chain reaction (MSP-PCR), heteroduplex-single strand conformation polymorphism polymerase chain reaction (HA-SSCP), restriction fragment length polymorphisms (RFLP) and measurement of DNA sequence. The transmissibility of the patients′ stirps was analyzed.Results In the 140 patients with LHON, G11778A mtDNA primary mutation was found in 130 (92.9%), including 113 males and 17 females; G3460A mutation was found in 2 (1.4%) including 1 male and 1 female; G14484A mutation was found in 8 (5.7% ) including 6 males and 2 females.Conclusion In Chinese patients with LHON, the incidence of G11778A mtDNA mutation is higher than that of G3460A and T14484C. (Chin J Ocul Fundus Dis，2003，19：269-332)
Objective To observe the characteristics of changes of 24hour ambulatory blood pressure and heart rate of 50 patients with anterior ischemic optic neuropathy (AION). Methods Fifty patients with AION and the persons without in the control group, which had the same number, gender and age as the patients with AION, underwent 24-hour ambulatory blood pressure and heart rate measurement. Results Both groups had no difference in mean blood pressure and heart rate during the daytime (t=1.25,0.93; P＞0.05), higher than those in the nighttime (t=3.63,3.16; P＜0.05). Mean blood pressure and heart rate of AION group at night were lower than those of the control group (t=3.82,1.77; P＜0.01,0.05), especially diastolic pressure of AION group was lower than that of the control group from 2 am to 7 am (P＜0.01), as well as the heart rate from 2 am to 5 am (P＜0.05 or P＜0.01). The curves of blood pressure of AION group showed more gradual and fluctuant rising, while those of the control group showed sharper and less fluctuant rising. Conclusion According to the curves of blood pressure rising, the patients with AION may have some defects in auto-regulatory mechanism of blood pressure. The low spots of blood pressure and heart rate in early morning, which might be a critical point leading to AION. (Chin J Ocul Fundus Dis, 2002, 18: 259-261)
Objective To analyze the new primary mutation in Chinese people with Leberprime;s hereditary optic neuropathy (LHON). Methods Genomic DNA was collected from 260 suspected LHON patients and 100 normal healthy persons. The mitochondria DNA mutation at nucleotide position (NP) 15257 and the hot spot (14452-14601 bp) of ND6 gene which include the mutations at NP (14482, 14498, 14568, 14596, 14495, and 14459) were screened by using polymerase chain reaction (PCR), heteroduplex-single strand conformation polymorphism (HA-SSCP) and restriction fragment length polymorphism (RFLP) analysis and sequencing. Primary mutation spectrum of Chinese race was analyzed. Results Eight kinds of polymorphism of mitochondria DNA were found in 260 suspected LHON patients and 100 normal healthy persons, including NP 14488C, 14518G, and 14617G which hadnrsquo;t been reported (http://www.mitomap.org/). No mutation at NP 15257, 14482, 14498, 14568, 14596, 14495, and 14459 was found. Conclusion The NP 15257A may not be the primary mutation in Chinese. Because of the race difference, 14452-14601 bp in ND6 gene may not be the hot spot in Chinese patients with LHON, and other hot spots may exist. (Chin J Ocul Fundus Dis, 2006, 22: 82-85)
Objective To investigate the effects and the safety of compound anisodine injection on treatment of primary and secondary ischemic optic neuropathy and choroidoretinopathy. Methods A multicentered,random,controlled study was applied on 403 patients,including 217 patients of primary ischemic optic neuropathy and choroidoretinopathy,and 186 patients of secondary ischemic optic neuropathy and choroidoretinopathy.All the patients were assigned into 3 groups randomly:112 patients in control group and treatment group respectively,179 patients in open group.Compound anisodine 2 ml was injected subcutaneously around superficial temporal artery to the patient in treatment and open group once every day,while tolazoline 25 mg was given in the same way to the patient in control group for 21 days.Visual acuity,visual field and fundus condition are examined to evaluate the effects of treatment,and intraocular pressure,blood pressure,electrocardiography,blood and urine routine examination,blood test for renal and liver function are taken to study the safety of the treatment.The main subjects of the control and treatment group before treatment were comparable (Pgt;0.05) Results The difference of effective rate between treatment group (82.14%) and control group (36.61%) was significant (chi;2=48.14,P=0.0000).The effective rate of open group is 80.45%.The effects on both primary and secondary patients in treatment group (87.04% and 77.59%) were better than those in control group (35.19% and 37.93%),and the difference was significant (P=0.0000) .The difference of the results in different centers was not significant according to Ridit analysis.There was few side effect except temporary dry mouth in some patients and the parameters of safety had no significant change before and after treatment. Conclusion Compound anisodine is a safe and effective drug to treat primary and secondary ischemic optic neuropathy and choroidoretinopathy. (Chin J Ocul Fundus Dis,2000,16:71-74)
ObjectiveTo analyze and discuss the clinical features and management of pediatric retinal detachment (RD) associated with morning glory syndrome (MGS). MethodsThe clinical data of 49 patients (51 eyes) with RD associated with MGS were retrospectively analyzed, including 27 males (27 eyes) and 22 females (24 eyes). The age at first diagnosis ranged from 1 week after birth and 13 years old (4.2±3.2) years. There were 33 eyes of exudative RD, 3 eyes of rhegmatogenous RD and 15 eyes of RD with undetermined cause. Twenty eyes of 20 patients had other congenital ocular abnormalities, including persistent hyperplastic primary vitreous, microphthalmia, choroidal coloboma, iris coloboma. Besides retinal detachment, other complications were found, including cataract, secondary glaucoma,corneal leukoma or edema, strabismus and nystagmus. Twenty-two cases (22 eyes) received treatment. Five cases of mild exudative retinal detachment took oral methazolamide tablets. Three eyes with mild and restricted retinal detachments got retinal laser photocoagulation around the optic disc. Fourteen cases of 14 eyes underwent surgery including vitrectomy, lensectomy, and phacoemulsification. Follow-up after treatment were three months or more, with an average of (20.3±11.8) months. The visual acuity, retinal reattachment and intraocular pressure and other complications after treatment were followed up. ResultsFive patients of exudative retinal detachment were remained stable by taking methazolamide tablets. Two of the 3 eyes remained stable after laser therapy; however, the remaining one eye was not controlled after relaser. Cataract and glaucoma were resolved by lensectomy in 7 eyes and phaco-emulsification surgery in 1 eye. Retina was re-attached in 6 eyes after vitrectomy. Among those treated, 10 eyes had records of visual acuity. Visual acuity was improved in 1 eye after laser therapy and remained stable in 9 eyes. There were no drugs and surgery-related complications. ConclusionsRetinal detachment was the main complication of MGS. The high incidence and poor prognosis call for the need of close follow-up and timely treatment, including medicine, laser and surgery.
Objective To observe the ocular manifestations and therapeutic effect of multiple sclerosis (MS) and neuromyelitis optica (NMO) with ocular symptoms.Methods The clinical data of 107 patients who was diagnosed with MS and NMO with ocular symptoms in our hospital were retrospectively analyzed, including 81 MS patients and 26 NMO patients.The counting of erythocytes and leukocyte，protein content and oligoclonal bands were detected by MRI and cerebrospinal fluid (CSF) in order to ensure the clinical diagnosis with MS and NMO. All the patients had undergone regular ophthalmologic examination of visual acuity，slit lamp microscope and fundus examination.In addition，visual field and visual evoked potential (VEP) examination were performed to analyze the clinical characteristics of ocular manifestations.The patients were received therapy with large dose methylprednisolone or activating blood and dissolving stasis and trophic nerve by chinese medicine. The effects of three methods on ocular manifestations were analyzed. All the patients were followed up for one month to five years. Results Among 81 MS patients，retrobulbar neuritis occurred in 24 patients (29.6%), the other common symptoms included paralytic strabismus and diplopia（30.3%）. Among 26 NMO patients，acute papillitis occurred in 12（46.2%），while retrobulbar neuritis occurred in 14 (53.8%). The most common symptom of both MS and NMO was impaired vision and high abnormal rate. The results of MRI showed that demyelinating lesions beside ventricle was the most performance in MS patients，while abnormalities in spinal cord were found in NMO patients.The results of CSF showed that the positive oligoclonal bands was 75.3% and 19.2% in MS and NMO patients respectively. The potential time delay and (or) amplitude declination were observed by VEP. Large dose methylprednisolone can improve vision and diplopia in a short period.Conclusion The abnormal ocular manifestations of MS and NMO patients are common and complicated. Ocular symptoms has important reference value in the early diagnosis of MS and NMO.
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.