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)
ObjectiveTo observe the features of the manifestations of fundus fluorescein angiography （FFA） in multiple sclerosis （MS） and their value in clinical diagnosis.MethodsThe clinical data of 42 patients (84 eyes) with MS diagnosed by magnetic resonance imaging (MRI) and examination of cerebrospinal fluid (CSF) were retrospectively analyzed. The clinical data included visual acuity, ocular fundus examined by direct ophthalmoscope after mydriasis, FFA, visual field, CSF，visual evoked potential (VEP) and MRI examination.ResultsIn 42 patients (84 eyes),the positive detectable rate of examination of direct ophthalmoscope, CSF, visual field, VEP, and MRI was 36.9%, 21.4%, 71.4%, and 83.3% respectively. Abnormal results of FFA were found in 44 eyes (52.38%), including papillitis in 4 eyes（4.76%）at the early stage with extended physiological scotoma and central scotoma; neuroretinitis in 7 eyes （8.33%）at the medium stage with central or para-central scotoma; optic atrophy in 33 eyes（39.29%） at the late stage with centripetal constriction and even tubular visual field. ConclusionThe main angiographic features of MS are papillitis, neuroretinitis and optic atrophy. The manifestations of FFA combined with the results of examination of CSF，visual field, VEP and MRI is helpful for comprehensive and exact diagnosis of MS.(Chin J Ocul Fundus Dis, 2005,21:300-302)
Morning glory syndrome (MGS) is a congenital optic disc anomaly. The characteristic ophthalmoscopic findings consist of a generally enlarged, funnel-shaped and excavated optic disc, surrounded by an elevated annulus of chorioretinal pigment disturbance, with a central glial tuft, multiple narrow branches of retina vessels radiating from the disc. There are peripheral non-perfusion retinal areas in most cases. The pathogenesis of MGS remains unclear. MGS might be associated with many ocular and systemic abnormalities, involving facial, central nervous, cerebrovascular and endocrine systems. Persistent hyperplastic primary vitreous and retinal detachments (RD) are the most common ocular complications of MGS. The mechanism RD in MGS is unclear. Vitrectomy with long-acting gas or silicone tamponade and photocoagulation around the breaks or the enlarged disc might be efficient for rhegmatogenous RD of MGS. Early diagnosis is crucial for recognition and treatment of the ocular and systemic complications, and maintenance of the visual function.
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 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)