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)