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)
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)
Objective To evaluate the treatment of surgery and high-dose corticosteroid relevant factors to prognosis in traumatic optic neuropathy. Methods Forty patients(40 eyes) with traumatic optic neuropathy were enrolled.Optic nerve decompression using transcranial approaches,sinus endoscopy and orbital-ethmoidal sinus rout were performed in 14 patients.Eleven patients were treated with high-dose corticosteroids (5 cases with 1 mg/kg dexamethasone,6 cases with 30 mg/kg methylprednisolone) and 15 patients received nonspecific management chose by themselves.The outcomes of visual acuity in short term and final stage were compared between surgery,high-dose corticosteroid and nonspecific treatment.Multiple variable analysis was done to determine the factors affecting the outcome of visual acuity. Results No light perception were found in 19 cases (19 out of 44 cases,47.5%),whereas visual acuity was light perception to 0.02 in 12 cases (30.0%) and 0.05 or better in 9 cases (22.5%).The odds ratio of high-dose corticosteroid to nonspecific therapy was 2.96 (P=0.0125).The final visual acuity in patients treated with high-dose corticosteroid were better than other two groups (P=0.005,P=0.023,respectively).The short term (within 3 days) effective rate was higher in corticosteroid therapy group than operated group (P=0.024).No light perception following optic nerve trauma appeared to be more danger as 2.14 folds (P=0.0349) than those with light perception or better in term of final visual acuity outcome. Conclusions High-dose corticosteroid may be benefit to traumatic optic neuropathy.The treatment in traumatic optic neuropathy using optic nerve decompression needs to be determined.No light perception at initial is an important risk factor in the outcome. (Chin J Ocul Fundus Dis,2000,16:75-77)
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)
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.
Objective To observe the characteristics of pupillary light reflex in the patients with retrobulbar neuritis, and to evaluate the effects of pupi llary light reflex on the diagnosis and treatment of retrobulbar neuritis. Methods Thirtyfive patients (thirtyfive eyes with the retrobulbar neuritis and thirtyfive fellow eyes) aged from 10 to 58 years and 50 healthy individuals (100 eyes) who didnlsquo;t differ from the patients in age and sex were examined by a automatic pupillometer. The pupillary area and response amplitude, latency and speed of papillary reflex were recorded. Results The latency of the pupillary light reflex delayed and the maximum amplitude decreased in patients with retrobulbar neuritis during the diseas eperiod, and the differences were highly significant compaired with the control group. After the treatment, as the symptoms were alleviated and the visual acuity improved, the latency of the pupillary light reflex and the maximum amplitude recovered. The statistic differences were both found between the results after treatment and those at the onset stage, and the results after treatment and those in the control group.Before the onset of the disease of the involued eyes and after the treatment, the papill ary light reflex and the maxium amplitude decreased, but didnamp;#146;t differe much from which in the control group. Conclusions The latency of the pupillary light reflex delayes and the maximum amplitude decreases in patients with retrobulbar neuritis. The examination of pupillary light reflex is helpful to diagnose retrobulbar neuritis early and inspect the condition of the disease. (Chin J Ocul Fundus Dis,2006,22:370-372)