CAJ | 학술논문

目的观察中国Leber先天黑嚎(LCA)患者的临床特征.方法前瞻性临床研究,分析15例LCA患者的临床资料.其中,男性10例,女性5例,年龄2～31岁,平均13.6岁.所有患者就诊时详细记录病史、家族史、围产期情况,并进行详细的外眼情况及眼前后节检查.12例患者行验光检查、10例患者行视网膜电流图(ERG)检查、8例患者行光相干断层扫描(OCT)检查.结果所有患者均有眼球震颤及瞳孔反射迟钝.患者视力为光感～0.1.5例有怕光症状,占33.3%;7例有夜盲史,占46.7%.12例验光患者中,6例双眼等效球镜＞+5D,占50.0%;1例单眼等效球镜＞5D,占8.3%;2例双眼轻至中度远视,占16.7%;1例1只眼正视,1只眼轻度近视,占8.3%;2例双眼中至高度近视,占16.7%.8例有眼球凹陷,占53.3%,4例有指眼征,占26.7%.10例行ERG检查的患者均为熄灭型,占100.0%.8例行OCT检查的患者中,7例中心凹视网膜厚度较正常人薄,占87.5 0%;1例较正常人增厚但同时合并黄斑前膜,占12.5%;2例视网膜各层结构正常,内外节(IS/OS)反光带较正常减弱且不连续,占25.0%;6例外界膜反光带、IS/OS强反光带消失,外界膜及其以外的视网膜各层结构紊乱,但内界膜以内的各层视网膜结构正常,占75.0%.结论严重视力损伤或盲、眼球震颤、瞳孔反射迟钝、熄灭型ERG及远视是Leber先天黑矇的主要临床特征.
목적 관찰중국Leber선천흑호(LCA)환자적림상특정.방법 전첨성림상연구,분석15례LCA환자적림상자료.기중,남성10례,녀성5례,년령2～31세,평균13.6세.소유환자취진시상세기록병사、가족사、위산기정황,병진행상세적외안정황급안전후절검사.12례환자행험광검사、10례환자행시망막전류도(ERG)검사、8례환자행광상간단층소묘(OCT)검사.결과 소유환자균유안구진전급동공반사지둔.환자시력위광감～0.1.5례유파광증상,점33.3%;7례유야맹사,점46.7%.12례험광환자중,6례쌍안등효구경＞+5D,점50.0%;1례단안등효구경＞5D,점8.3%;2례쌍안경지중도원시,점16.7%;1례1지안정시,1지안경도근시,점8.3%;2례쌍안중지고도근시,점16.7%.8례유안구요함,점53.3%,4례유지안정,점26.7%.10례행ERG검사적환자균위식멸형,점100.0%.8례행OCT검사적환자중,7례중심요시망막후도교정상인박,점87.5 0%;1례교정상인증후단동시합병황반전막,점12.5%;2례시망막각층결구정상,내외절(IS/OS)반광대교정상감약차불련속,점25.0%;6예외계막반광대、IS/OS강반광대소실,외계막급기이외적시망막각층결구문란,단내계막이내적각층시망막결구정상,점75.0%.결론 엄중시력손상혹맹、안구진전、동공반사지둔、식멸형ERG급원시시Leber선천흑몽적주요림상특정.
Objectives To observe the clinical characteristics of Leber congenital amaurosis (LCA)and analyze the features to differentiate LCA from other similar disorders.Methods Prospective study of 15LCA patients which include 10 males and 5 females,aged from 2 to 31 years with the mean age 13.6 years.Medical history,family history,perinatal conditions,as well as complete ocular evaluations were well documented.Among the subjects,12 patients underwent optometry check,10 patients underwent ERG and 8 patients had OCT testing.Results All of the patients had nystagmus and sluggish pupillary reflex.The visual acuity distributed from light perception to 0.1.Fivepatients (33.3%) were presented with photophobia,while 7 patients (46.7%) had nyctalopia.Among 12 cases underwent refraction examination,6 patients (50% ) had spherical equivalent of≥ + 5D;1 patient(8.3 % )had spherical equivalent of≥+5D;2patients (16.7%) had bilateral mild to moderate hyperopia;1 patient (8.3%) had one emmertropic eye and one mild myopic eye;2 patients (16.7%) had moderate to high myopia.Eight patients (53.3%) had enophthalmus,4 patients (26.7%) had oculo-digital sign.All of the 10 patients underwent ERG showed extinguished waveform.Under OCT assesement,7 patients had decreased fovea thickness;1 patient had increased fovea thickness,complicated by epiretinal membrane;mild abnormality of microstrueture of the retina with diminished and disrupted IS/OS hyperreflectivity were found in 2 cases;while more pronounced disarrangement of the retinal layers were found in 6 cases,inner layers were better reserved in all patients.Conclusions Severe visual impairment or blindness,nystagmus,pupillary reflex,extinguished ERG and hyperopia are main clinical characteristics of LCA.