中文摘要：

目的 观察中国人眼白化病1型（OA1）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。

英文摘要：

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 OA1 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.Conclusions The major clinical characteristics of Chinese OA1 patients are foveal hypoplasia and GPR143 gene mutation.