张某某，男，26岁
Mr.Zhang, male,26 years old
一、病例特点
General Information
病史
现病史：患者主因“双眼视力不佳、眼球震颤”于我院就诊。患者无畏光流泪，无其他特殊不适。
既往史：无特殊记载。
Medical History:
Present Medical History:
The patient complained of bad vision, nystagmus from childhood without photophobia, tearing or any other problems.
Past medical history:
No special record.
查体
患者一般情况可，发育正常，营养中等，除发色发黄夹杂白发外，余部位毛发及全身皮肤色泽正常，心肺腹检查未见异常。父母非近亲结婚，家族成员无类似疾病。
Physical examination:
Body condition is good generally. Other than paler hair, the patient had no cutaneous manifestations of albinism,and pigmentation of body hair was intact(Figure1).The parents are not intermarriaged and there is no similar disease in the family.
眼科检查
双眼:轻度外斜，混合性眼球震颤, 最佳矫正视力0.3，眼压正常，双眼角膜透明，前房深度可，双眼虹膜色泽正常，瞳孔等大等圆，晶状体、玻璃体透明，眼底视盘界清色可，视盘颞侧未见明显暗红色黄斑区及中心凹反光，视网膜色橙红，中周部脉络膜血管可透见。
Ocular examinations:
The patientwas exotropic with compound nystagmus. Best-corrected visual acuity measured 0.3 in both eyes. Slit-lamp examination showed normal anterior segment and no diffuse iris transillumination bilaterally (Figure2). Dilated examination revealed unmarkedly albinotic fundi. But each macula appeared flat with absent foveal pit (Figure 3).
辅助检查
干涉光断层扫描仪示双眼黄斑中心凹生理凹陷缺失。多焦视网膜电图示中央锥峰呈多峰状。视频眼动图提示眼震波型以假钟摆型水平冲动波为主（图4）。
Ancillary examination
OCT shows the foveal pit is absent in both eyes. The multifocal ERG revealed multiple peaks in the centre. Eye movement recorder revealed horizontal pseudo pendularnystagmus(Figure 4).
初步诊断
眼白化病
Impression
Ocular albinism
二、查房记录
Consultation
钱学翰副主任医师
根据患者病史、眼部检查、全身体征，诊断明确。
白化病是一组由黑色素合成相关基因突变导致的眼或眼、皮肤、毛发黑色素缺乏性遗传病，根据色素缺乏受累的部位和有无其他异常分为三种类型，分别是（1）眼、皮肤和毛发均呈色素缺乏的眼皮肤型白化病,（2）仅有眼色素缺乏的眼白化病，以及（3）既有眼-皮肤白化病表现又有其他系统症状的白化病相关综合征。三种类型患者的共同特征是眼部均存在色素的缺乏，眼发育过程中黑色素的缺乏引起眼一系列严重的功能改变和临床表现，如视力低下、畏光、眼球震颤、斜视、患眼虹膜透光、视网膜脉络膜色素缺乏、黄斑中心凹发育不良等。患眼虹膜色素缺乏使其颜色呈蓝色或灰色半透明，致患者畏光、羞明、注视困难。视网膜脉络膜色素缺乏使眼底呈鲜红或橙红色，脉络膜血管清晰可见。其他眼部异常还包括视觉纤维通路异常、黄斑中心凹发育不良等。白化病患者的黄斑在发育过程中分化不成熟，中心凹反光点消失，黄斑的形态和厚度都有异常，眼球震颤和视敏度下降与此密切相关。
本例患者虽头发色黄，但其他部位毛发及全身皮肤色泽正常，以眼部表现为主，属眼白化病型。此型多为X连锁隐性遗传，发病者多为男性。
目前临床对白化病尚无有效的治疗方法，可矫正屈光不正，佩戴有色眼镜减轻畏光症状，对明显斜视可行眼肌手术。应以预防为主，禁止近亲结婚是重要的预防措施之一。
Dr Qian Xuehan
Based on the clinical symptoms and eye examinations, the diagnosis of the patient is clear.
Albinism is characterized by decreased or absent melanin synthesis, resulting in abnormalities ofskin and hair pigmentation, which includes oculocutaneous albinism(OCA), ocular albinism(OA) and other syndromes. Ocular manifestations are characteristic and include reduced visual acuity, typically in the range of 20/100 to 20/400; photophobia; nystagmus; strabismus; iris transillumination defects; and a hypopigmented fundus with an absent foveal pit.Iris hypopigmentation and translucency makes the iris looks blue or gray and the patients’ photophobia. Reduced pigmentation of the retinal pigment epithelium makes the fundus looks red and the choroid vessels are apparent to see. Other abnormalities include misrouting of the optic nerves and foveal hypoplasia, resulting in nystagmus and reduced contrast sensitivity.
Other than paler hair, the patient had no cutaneous manifestations of albinism,and pigmentation of body hair was intact. There were mainly ocular findings in the clinical features, because of which was diagnosed as ocular albinism. This kind of albinism is inherited as X-linked recessive disorders and mainly affect males.
There are no effective therapies for albinism. Glasses may often be of sufficient help. Photophobia can be helped with dark glasses . For strabismus it may be necessary to peform surgery of the eye muscles .Intermarriage prohibition is one of the preventive measures.
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