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 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 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)