目的:研究形觉剥夺性和光学离焦性近视豚鼠视紫红质的表达变化,探讨视紫红质表达与实验性近视眼之间的关系。

方法:40只出生后1周的豚鼠随机分为形觉剥夺组和光学离焦组(n=20),形觉剥夺组单眼戴半透明(半透明薄膜贴于平镜表面)平光硬性角膜接触镜片(Rigidgass-pemmeable contactlens，RCP),光学离焦组单眼藏-4.0DRGP镜片,另一只眼为对照组。戴镜干预后1、2周各组分别测量屈光度、眼轴长度、玻璃体腔深度,并于上午10~12点钟取材,实时荧光定量PCR观察视紫红质 mRNA 的变化,Westem-blot 观察视紫红质的变化,进行对比比较,统计分析。

结果:实验干预后1周,形觉剥夺组和光学离焦组与对照组相比各项指标无显著性差(除形觉剥夺组屈光度以外)。实验干预后2周,与对照组相比较,形觉剥夺组和光学离焦组明显发生近视、眼轴延长、玻璃体腔加深(t=22.20、18.32、19.65、15.78、6.18、11.20.P<0.01):形觉剥夺组视紫红质及其 mRNA 表达均增加(t=17,489、14.31.P<0.05)光学离焦组视紫红质及其mRNA表达无明显变化。

结论:视紫红质的表达可能参与了形觉剥夺性近视眼的形成,而在光学离焦性近视眼中作用有限。

Purpose:To investigate the rhodopsin expression in form-deprived and defocus myopiain guinea pig and study the relationship between the rhodopsin expression andexperimental myopia.

Methods:Fourty guinea pigs were randomized into the form-deprived group and thedefocus group (n= 20 ). Guinea pigs in the form-deprived group wore a diffuser(rigidgass-permeable contact lens(RGP)on one eye since one week after birth. Those in defocus group wore a -4 D RGPon one eye. The contralateral eyes were left ascontrol. Refraction, axial length and depth of vitreous cavity were measured after 1and 2 weeks respectively. Retina were dissected at 10 ~ 12 o'clock in the moring.The level of rhodopsin and its mRNA were observed through Western-blot and real-time PCR respectively.

Result:There is no difference between form-deprived group, defocus group and controlgroups(except refraction in form-deprived group). One week later, there is nodifference between the form-deprived group, the defocus group and the control groups(except refraction in form-deprived group). Two weeks later, eyes in the form-deprivedgroup and the defocus group became myopic. Its axial length lengthened and depth ofvitreous cavity appeared deep. The form-deprived groups showed an increasedexpression of rhodopsin and its mRNA compared to the control groups. There is nodifference between the defocus group and the control groups.

Conclusion : Expression of rhodopsin might involve formation of form-deprived myopia,but has less influence on defocus myopia.

因不同的眼部和神经性疾病，导致视觉功能严重受损，为低视力患者日常活动(如阅读及驾驶)及生活质量、心理健康带来严重的影响。人们对外界信息的感知主要来源于视觉，除威胁生命的重大疾病外，对人感官影响最大的损害当属视觉损伤。且随着人口日益老龄化，该问题日趋加重，低视力已成为目前全球范围内一个严重的公共卫生问题。目前，低视力康复发展面临着临床和科研的巨大挑战，要研发出一种能有效改善视觉功能，同时能兼顾多种功能的视障辅助技术，这需要医学、生物学、工程学、微电子学、计算机学等多学科的共同发展和相互合作。低视力康复通过为患者提供适宜的视障辅助技术，最大化利用患者的残余视力及视觉功能，改善与低视力相关的功能限制，有效改善其独立性和整体生活质量，使其独立生活、工作并融入社会成为可能。该文对经典的助视器、人工视觉(视觉假体/视觉感官替代设备)、经颅刺激及视觉生物反馈训练等视障辅助技术在低视力康复中的应用进展进行综述。

Patients with low vision are severely impaired in visual function due to different ocular and neurological disorders,which have a serious impact on their daily activities (such as reading and driving), quality of life and mental health.People's perception of external information mainly comes from vision. Expect for the life-threatening major diseases,visual damage has the greatest impact on people's senses. With the ageing of the population, the problem is getting worse, and low vision has become a serious public health problem in the world. Currently the development of low vision rehabilitation is facing a huge challenge in clinical and scientific research, to develop a visual impairment assistance technology that can effectively improve visual function while balancing multiple functions. It requires the joint development and cooperation of multiple disciplines such as medicine, biology, engineering, microelectronics, and computer science. Low vision rehabilitation provides patients with appropriate visual impairment assistance technology,maximizing the use of residual vision and visual function of patients, improving the functional limitations associated with low vision, effectively improving their independence and overall quality of life, and makes it possible for them to live, work and integrate into the society independently. This article reviews the progress in the application on visual impaired assistive technologies such as classic visual aids, artificial vision (visual prostheses/visual sensory replacement devices), transcranial stimulation and visual biofeedback training in low vision rehabilitation.

特发性先天性眼球震颤(idiopathic congenital nystagmus，ICN)是一种常见的眼科疾病，患者常有明显的特征性的眼部异常，多伴有学习、社交障碍，对其身心健康影响较大。ICN遗传倾向明显，多表现为X染色体连锁(显性或隐性)，目前研究发现以FRMD7基因突变致病较为显著。近10余年来，国内外学者们在遗传学方面针对ICN和FRMD7基因做了大量的研究工作，取得了令人瞩目的结果。本文就2006年以来研究者们在FRMD7基因所致X连锁ICN的突变类型及位点作一总结，归纳并探讨FRMD7突变可能的致病机制，旨在为学者们提供以往研究结果的查证和未来研究方向的参考。

Idiopathic congenital nystagmus (ICN) is a common ophthalmic disease in which patients often have obvious and characteristic eye abnormalities. ICN patients are often accompanied by learning and social disorders, have a great impact on their physical and mental health. ICN which has an obvious genetic tendency and is mostly manifested as X chromosome linkage (dominant or recessive). Current studies have found that the mutation of FRMD7 gene is the most significant pathogenic factor. In the past 10 years, researchers have done a lot of work on the genetics of ICN and FRMD7 gene, and achieved remarkable results. This review summarizes the typ mutations caused by FRMD7 gene since 2006, and also discusses the possible pathogenesis of FRMD7 mutations, aiming to provide references for scholars to verify previous research results and future research directions.