视神经萎缩,遗传性,Leber%DNA,线粒体/分析%突变/遗传学
視神經萎縮,遺傳性,Leber%DNA,線粒體/分析%突變/遺傳學
시신경위축,유전성,Leber%DNA,선립체/분석%돌변/유전학
Optic atrophy,hereditary,Leber%DNA,mitochondrial/analysis%Mutation/genetics
目的 观察30岁以后发病的Leber遗传性视神经病变(LHON)患者的临床特征.方法 临床确诊为LHON的9例患者18只眼纳入研究.所有患者均为男性.发病年龄34～56岁,平均年龄(45.22±6.91)岁.病程7 d～21个月,病程中位数5个月.所有患者均详细询问病史及家族史,并行视力、裂隙灯显微镜、直接检眼镜、色觉、眼底照相检查.6例11只眼同时行视野检查.观察患者的各项检查表现.抽取患者静脉血进行线粒体DNA(mtDNA)检测,分析其基因突变位点.平均随访时间12个月,随访观察患者的视力情况.结果 9例患者中,有家族史者7例,占77.78％.双眼同时发病5例,占55.56％;双眼先后发病4例,占44.44％.视力突然下降3例,占33.33％;逐渐下降6例,占66.67％.18只眼中,视力光感1只眼,占5.55％;数指3只眼,占16.67％;0.01～0.1者7只眼,占38.89％;0.12～0.3者3只眼,占16.67％;≥0.4者4只眼,占22.22％.瞳孔对光反射正常16只眼,占88.88％;瞳孔直接对光反射消失1只眼,占5.55％;瞳孔传入障碍1只眼,占5.55％.视盘颜色淡红、边界清楚8只眼,占44.44％;视盘充血、边界模糊、视盘表面毛细血管扩张3只眼,占16.67％;视盘颜色淡白、边界清楚7只眼,占38.89％.行视野检查的11只眼中,表现为中心暗点或旁中心暗点9只眼,占81.82％;表现为视野缩窄2只眼,占18.18％.mtDNA检测发现,9例患者中,G11778A位点突变阳性7例,占77.78％;T14484C位点突变阳性1例,占11.11％;G11696A位点突变阳性1例,占11.11％.末次随访时,18只眼中,视力光感1只眼,占5.55％;数指4只眼,占22.22％;0.01～0.1者6只眼,占33.33％;0.12～0.3者3只眼,占16.67％;≥0.4者4只眼,占22.22％.视力提高9只眼,占50.00％;稳定7只眼,占38.89％;下降2只眼,占11.11％.结论 30岁以后发病的LHON多发生于男性患者,瞳孔对光反射大多正常,视野主要表现为中心暗点或旁中心暗点,以G11778A位点基因突变为多见.
目的 觀察30歲以後髮病的Leber遺傳性視神經病變(LHON)患者的臨床特徵.方法 臨床確診為LHON的9例患者18隻眼納入研究.所有患者均為男性.髮病年齡34～56歲,平均年齡(45.22±6.91)歲.病程7 d～21箇月,病程中位數5箇月.所有患者均詳細詢問病史及傢族史,併行視力、裂隙燈顯微鏡、直接檢眼鏡、色覺、眼底照相檢查.6例11隻眼同時行視野檢查.觀察患者的各項檢查錶現.抽取患者靜脈血進行線粒體DNA(mtDNA)檢測,分析其基因突變位點.平均隨訪時間12箇月,隨訪觀察患者的視力情況.結果 9例患者中,有傢族史者7例,佔77.78％.雙眼同時髮病5例,佔55.56％;雙眼先後髮病4例,佔44.44％.視力突然下降3例,佔33.33％;逐漸下降6例,佔66.67％.18隻眼中,視力光感1隻眼,佔5.55％;數指3隻眼,佔16.67％;0.01～0.1者7隻眼,佔38.89％;0.12～0.3者3隻眼,佔16.67％;≥0.4者4隻眼,佔22.22％.瞳孔對光反射正常16隻眼,佔88.88％;瞳孔直接對光反射消失1隻眼,佔5.55％;瞳孔傳入障礙1隻眼,佔5.55％.視盤顏色淡紅、邊界清楚8隻眼,佔44.44％;視盤充血、邊界模糊、視盤錶麵毛細血管擴張3隻眼,佔16.67％;視盤顏色淡白、邊界清楚7隻眼,佔38.89％.行視野檢查的11隻眼中,錶現為中心暗點或徬中心暗點9隻眼,佔81.82％;錶現為視野縮窄2隻眼,佔18.18％.mtDNA檢測髮現,9例患者中,G11778A位點突變暘性7例,佔77.78％;T14484C位點突變暘性1例,佔11.11％;G11696A位點突變暘性1例,佔11.11％.末次隨訪時,18隻眼中,視力光感1隻眼,佔5.55％;數指4隻眼,佔22.22％;0.01～0.1者6隻眼,佔33.33％;0.12～0.3者3隻眼,佔16.67％;≥0.4者4隻眼,佔22.22％.視力提高9隻眼,佔50.00％;穩定7隻眼,佔38.89％;下降2隻眼,佔11.11％.結論 30歲以後髮病的LHON多髮生于男性患者,瞳孔對光反射大多正常,視野主要錶現為中心暗點或徬中心暗點,以G11778A位點基因突變為多見.
목적 관찰30세이후발병적Leber유전성시신경병변(LHON)환자적림상특정.방법 림상학진위LHON적9례환자18지안납입연구.소유환자균위남성.발병년령34～56세,평균년령(45.22±6.91)세.병정7 d～21개월,병정중위수5개월.소유환자균상세순문병사급가족사,병행시력、렬극등현미경、직접검안경、색각、안저조상검사.6례11지안동시행시야검사.관찰환자적각항검사표현.추취환자정맥혈진행선립체DNA(mtDNA)검측,분석기기인돌변위점.평균수방시간12개월,수방관찰환자적시력정황.결과 9례환자중,유가족사자7례,점77.78％.쌍안동시발병5례,점55.56％;쌍안선후발병4례,점44.44％.시력돌연하강3례,점33.33％;축점하강6례,점66.67％.18지안중,시력광감1지안,점5.55％;수지3지안,점16.67％;0.01～0.1자7지안,점38.89％;0.12～0.3자3지안,점16.67％;≥0.4자4지안,점22.22％.동공대광반사정상16지안,점88.88％;동공직접대광반사소실1지안,점5.55％;동공전입장애1지안,점5.55％.시반안색담홍、변계청초8지안,점44.44％;시반충혈、변계모호、시반표면모세혈관확장3지안,점16.67％;시반안색담백、변계청초7지안,점38.89％.행시야검사적11지안중,표현위중심암점혹방중심암점9지안,점81.82％;표현위시야축착2지안,점18.18％.mtDNA검측발현,9례환자중,G11778A위점돌변양성7례,점77.78％;T14484C위점돌변양성1례,점11.11％;G11696A위점돌변양성1례,점11.11％.말차수방시,18지안중,시력광감1지안,점5.55％;수지4지안,점22.22％;0.01～0.1자6지안,점33.33％;0.12～0.3자3지안,점16.67％;≥0.4자4지안,점22.22％.시력제고9지안,점50.00％;은정7지안,점38.89％;하강2지안,점11.11％.결론 30세이후발병적LHON다발생우남성환자,동공대광반사대다정상,시야주요표현위중심암점혹방중심암점,이G11778A위점기인돌변위다견.
Objective To observe the clinical features of patients over 30 years old with Leber hereditary optic neuropathy (LHON).Methods Nine male LHON patients (18 eyes) were enrolled in this study.The patients aged from 34 to 56 years old,with an average age of (45.22±6.91) years.The course of the disease ranged from 7 days to 21 months,with a mean course of 5 months.Visual acuity,slit lamp microscope,chromoptometry,direct ophthalmoscope and fundus photography were measured for all patients,visual field examined for 6 patients (11 eyes).Mitochondrial DNA mutation was analyzed.The visual acuity was followed-up for 12 months.Results Seven of the 9 patients (77.78％) had family history.Five patients (55.56％) had both eyes involved simultaneously,and 4 patients (44.44％) had the eyes involved at different time.Three patients (33.33％) had sudden visual loss,and 6 patients (66.67％) had gradual visual loss.The visual acuity was light perception in 1 eye (5.55％),finger counting in 3 eyes (16.67％),0.01-0.1 in 7 eyes (38.89％),0.12-0.3 in 3 eyes (16.67％),equal or greater than 0.4 in 4 eyes (22.22％).Sixteen eyes (88.88％) had normal light reflex,1 eye (5.55％) had no light reflex,and 1 eye (5.55％) had relative afferent papillary defect.Eight eyes (44.44％) had normal optic disk,3 eyes (16.67％) had blurred optic disc border and disc telangiectasia,7 eyes (38.89％) had pale disc and clear boundary.Among 11 eyes underwent visual field examination,9 eyes (81.82％) had central or paracentral scotoma and 2 eyes (18.18％) had visual field narrowing.Among 9 patients,there were 7 patients (77.78％) with G11778A mutation,1 patient (11.11％) with G11696A mutation,and 1 patient (11.11％) with T14484C mutation.In the last follow-up,the visual acuity was light perception in 1 eye (5.55％),fingercounting in 4 eyes(22.22％),0.01-0.1 in 6 eyes(33.33％),0.12-0.3 in 3 eyes (16.67％),equal or greater than 0.4 in 4 eyes (22.22％).The visual acuity was improved in 9 eyes (50.00％),stable in 7 eyes(38.89 ％),and decreased in 2 eyes (11.11 ％).Conclusion LHON patients (older than 30 years) are more common in men,mostly with normal light reflex,central or paracentral scotoma and G11778A mutation.
