CAJ | 학술논문

[目的]观察中国人眼白化病1型(OAI)的临床表现特点.[方法]临床和基因检查确诊的16例OA1患者及8例女性携带者纳入研究.其中8例患者和4例携带者来自同一个家系.所有患者和携带者均进行了矫正视力、详细的裂隙灯显微镜眼前节检查.16例患者中,行间接检眼镜检查15例；眼前节照相10例；眼底彩色照相4例；散瞳检影验光8例;光相干断层扫描(OCT)3例；8例携带者中,行眼前节照相3例；眼底彩色照相3例.根据检查结果将虹膜色素沉着分为A、B、C三种类型.A型:虹膜色素轻微沉着不足；B型:虹膜色素沉着不均匀；C型:虹膜呈大片状色素缺失伴虹膜震颤.所有患者和携带者均进行了致病基因GPR143的检测.[结果]16例患者矫正视力0.1～0.3;均有双眼球水平震颤,呈跳动型,双眼位正,未见斜视.验光检查者8例中,中度远视散光3例,低度远视散光5例.裂隙灯显微镜检查结果显示,16例患者中,虹膜色素沉着A型者8例,占50.0％；B型者7例,占43.7％；C型者1例,占6.3％.8例携带者中,虹膜色素沉着A型者2例,占25.0％；正常者6例,占75.0％.行间接检眼镜检查者15例均未见白化病眼底表现,仅表现为轻度色素沉着不足,未见黄斑中心凹结构.8例携带者中,眼底条纹状或点片状色素缺失4例；正常眼底4例.黄斑中心凹结构正常.OCT检查者3例均未见明显黄斑中心凹结构.基因检测结果显示,所有患者的GPR143基因均发现突变,检出率100.0％.携带者均检测到携带突变的致病基因.[结论]国人OA1患者临床表现不典型,黄斑中心凹发育不良；致病基因突变检出率高.
[목적]관찰중국인안백화병1형(OAI)적림상표현특점.[방법]림상화기인검사학진적16례OA1환자급8례녀성휴대자납입연구.기중8례환자화4례휴대자래자동일개가계.소유환자화휴대자균진행료교정시력、상세적렬극등현미경안전절검사.16례환자중,행간접검안경검사15례；안전절조상10례；안저채색조상4례；산동검영험광8례;광상간단층소묘(OCT)3례；8례휴대자중,행안전절조상3례；안저채색조상3례.근거검사결과장홍막색소침착분위A、B、C삼충류형.A형:홍막색소경미침착불족；B형:홍막색소침착불균균；C형:홍막정대편상색소결실반홍막진전.소유환자화휴대자균진행료치병기인GPR143적검측.[결과]16례환자교정시력0.1～0.3;균유쌍안구수평진전,정도동형,쌍안위정,미견사시.험광검사자8례중,중도원시산광3례,저도원시산광5례.렬극등현미경검사결과현시,16례환자중,홍막색소침착A형자8례,점50.0％；B형자7례,점43.7％；C형자1례,점6.3％.8례휴대자중,홍막색소침착A형자2례,점25.0％；정상자6례,점75.0％.행간접검안경검사자15례균미견백화병안저표현,부표현위경도색소침착불족,미견황반중심요결구.8례휴대자중,안저조문상혹점편상색소결실4례；정상안저4례.황반중심요결구정상.OCT검사자3례균미견명현황반중심요결구.기인검측결과현시,소유환자적GPR143기인균발현돌변,검출솔100.0％.휴대자균검측도휴대돌변적치병기인.[결론]국인OA1환자림상표현불전형,황반중심요발육불량；치병기인돌변검출솔고.
[Objective] To observe the clinical characteristics of ocular albinism type 1 (OA1) in China.[Methods] Sixteen patients with OA1 and eight female carriers (eight OA1 patients and four carriers were from the same family) were enrolled in this study.All subjects were examined for corrected visual acuity,slit-lamp microscopy and GPR143 gene mutation detection.Some subjects also received indirect ophthalmoscopy,photography of anterior segment and ocular fundus,retinoscopy and optical coherence tomography (OCT).Iris pigmentation was divided into type A,B and C according to the above findings.Type A:slight pigmentation; type B:uneven pigmentation; type C:large patch of hypo-pigmentation with hippus.Result The corrected visual acuity of 16 OA1 patients was from 0.1 to 0.3.All the OAI patients have bilateral horizontal nystagmus without strabismus.All eight subjects received retinoscopy have medium to low hypermetropia and astigmatism.Type A,B and C iris pigmentation were found in eight (50.0％),seven (43.7％) and one (6.3％) patients,respectively.Two (25.0％) carriers have Type A iris pigmentation,and other six carriers (75.0％) were normal.There is no typical albinism retinopathy,however macular foveal structures were never found in these patients.Four carriers have fundus striate or uneven hypo-pigmentation.The macular foveal structure of all the carriers was normal.The macular foveal structure was not found in three subjects who underwent examination of OCT.GPR143 gene mutation was found in all the OA1 patients (100.0％) and all the carriers.[Conclusion]s The major clinical characteristics of Chinese OA1 patients are foveal hypoplasia and GPR143 gene mutation.