Bennett Jeffrey L
Department of Neurology, University of Colorado Health Sciences Center, Denver 80262, USA.
J Neuroophthalmol. 2002 Dec;22(4):286-96. doi: 10.1097/00041327-200212000-00006.
The field of developmental neurogenetics has burgeoned over the past decade. Through the combined efforts of developmental biologists, geneticists, and clinicians, genetic defects resulting in neuro-ophthalmic disorders such as holoprosencephaly, microphthalmia, dominant optic atrophy, and optic nerve colobomas have been identified and characterized at the molecular level. Experimental studies in model organisms are continuing to identify novel genes critical for ocular and central nervous system development. Mutations in some of these genes have revealed a spectrum of pathology similar to that observed in septo-optic dysplasia, Möebius syndrome, and Duane retraction syndrome. This review examines our current knowledge of the molecular genetics of neuro-ophthalmic disease and focuses on several candidate genes for afferent and efferent visual system disorders.
在过去十年中，发育神经遗传学领域蓬勃发展。通过发育生物学家、遗传学家和临床医生的共同努力，导致全前脑畸形、小眼症、显性视神经萎缩和视神经缺损等神经眼科疾病的遗传缺陷已在分子水平上得到鉴定和表征。对模式生物的实验研究不断发现对眼和中枢神经系统发育至关重要的新基因。其中一些基因的突变揭示了一系列与在视隔发育不良、默比厄斯综合征和杜安眼球后退综合征中观察到的病理相似的病理情况。本文综述了我们目前对神经眼科疾病分子遗传学的认识，并重点关注传入和传出视觉系统疾病的几个候选基因。
