PDF(Pubmed)
Abstract：
Mutations in CEP290, which encodes a centrosomal protein, cause Joubert syndrome, retinal dystrophy, and several other manifestations. Retinal dystrophy related to CEP290 mutation (Leber\'s congenital amaurosis type 10) presents with a severe visual impairment from birth, wandering eye movements, and oculodigital reflex. Fundus examination may initially be normal, but varying degrees of retinal pigmentation can be detected over time. This report presents 4 children who were referred to the ophthalmology clinic with a lack of eye contact and the suspicion of low vision. The ophthalmological examination revealed very poor visual function, the vision slightly improved over time, and enophthalmos became evident. There was neuromotor retardation in their history and mutations in the CEP290 gene were revealed in the whole-exome analysis. Both pediatricians and ophthalmologists should be aware of the coincidence between severe vision loss and neuromotor retardation and should refer patients for genetic testing if they suspect it. Genetic diagnosis will enable patients to be followed both neurologically and ophthalmologically and to benefit from rehabilitation opportunities that will contribute to visual and neurological development. It will also allow the family to receive genetic counseling on disease progression and heredity, and to follow ongoing gene therapy studies for mutations in the relevant gene.
摘要：
编码中心体蛋白的CEP290突变，因为Joubert综合征,视网膜营养不良,和其他几种表现。与CEP290突变相关的视网膜营养不良（Leber先天性黑蒙10型）从出生时表现出严重的视力障碍，游走的眼球运动，和眼指反射.眼底检查最初可能是正常的，但是随着时间的推移，可以检测到不同程度的视网膜色素沉着。本报告介绍了4名儿童，他们因缺乏眼神接触和怀疑视力低下而被转诊到眼科诊所。眼科检查显示视觉功能非常差，视力随着时间的推移略有改善，眼球内陷变得明显。他们的病史中有神经运动迟缓，并且在全外显子组分析中发现了CEP290基因的突变。儿科医生和眼科医生都应该意识到严重视力丧失和神经运动迟缓之间的巧合，如果他们怀疑这一点，应该转介患者进行基因检测。基因诊断将使患者能够在神经和眼科上得到随访，并受益于有助于视觉和神经系统发育的康复机会。它还将允许家庭接受有关疾病进展和遗传的遗传咨询，并跟踪正在进行的相关基因突变的基因治疗研究。
