巴西一大家系Leber遗传性视神经mtDNA 11778突变的无症状携带者的色觉缺陷:病例对照研究  

Colour vision defects in asymptomatic carriers of the Leber’s hereditary optic neuropathy (LHON) mtDNA 11778 mutation from a large Brazilian LHON pedigree:A case-control study

作　　者：Quiros P.A. Torres R.J. Salomao S. 王静波 

机构地区：[1]Doheny Eye Institute, 1450 San Pablo Street, Los Angeles, CA 90033, United States Dr.

出　　处：《世界核心医学期刊文摘（眼科学分册）》2006年第5期18-19,共2页Digest of the World Core Medical Journals:Ophthalmology

摘　　要：Aims: To determine if asymptomatic carriers from a previously identified large pedigree of the Leber’s hereditary optic neuropathy (LHON) 11778 mtDNA mutation have colour vision deficits. Methods: As part of a comprehensive analysis of over 2CXD members of a large Brazilian LHON pedigree spanning seven generations, colour vision tests were obtained from 91 members. Colour vision was tested one eye at a time using the Farnsworth-Munsell 100 (FM-100) hue colour vision test. The test was administered under uniform conditions, taking into account: ambient light levels, daylight colour temperature of 6700 kelvin, and neutral uniform background. Tests were scored using the FM-100 MS-Excel computer scoring program. Defects were determined and categorised as tritan, deutan, or protan. Categorisation of each dyschromatopsia was based on review of demonstrated axis computer generated plots and age adjusted error scores which coincided with Verriest 95%confidence intervals. Only the axis with the greatest magnitude error score was used to classify the defect. 55 of the 91 test subjects were LHON mtDNA 11778 J haplotype mutation carriers, proved by mtDNA analysis. The remaining 36 subjects were age matched non-blood relatives (off pedigree), who served as controls. Results: 27 of 55 carriers (49.10%) were shown to have colour vision defects in one or both eyes. 13 of the 27 (48%) abnormal tests in the carrier group were tritan defects and the remaining 14 (52%) were deutan defects. Nine of the 27 (33%) abnormals in the carrier group were identified as having bilateral defects. Six of these were deutan, and the remaining three were tritan dyschromatopsias. Only six of the 36 (16.66%) age matched controls were found to have any type of dyschromatopsia. Five (83.3%) of these were deutan defects. The remaining one was a tritan defect. The difference between the two groups using χ2 test with one degree of freedom was statistically significant with a p value less that 0.001. Conclusions: Until now, LHON has always been characteAims： To determine if asymptomatic carriers from a previously identified large pedigree of the Leber＇ s hereditary optic neuropathy （LHON） 11778 mtDNA mutation have colour vision deficits. Methods： As part of a comprehensive analysis of over 2CXD members of a large Brazilian LHON pedigree spanning seven generations, colour vision tests were obtained from 91 members. Colour vision was tested one eye at a time using the Famsworth-Munsell 100 （FM-100） hue colour vision test. The test was administered under uniform conditions, taking into account： ambient light levels, daylight colour temperature of 6700 kelvin, and neutral uniform background. Tests were scored using the FM-100 MS-Excel computer scoring program. Defects were determined and categorised as tritan, deutan.

关 键 词：Leber遗传性视神经病变 无症状携带者 色觉缺陷 大家系 病例对照研究 MTDNA 巴西 突变 色觉试验 色觉检查 

分 类 号：R774.6[医药卫生—眼科] R512.62[医药卫生—临床医学]