Developmental neurogenetics and neuro-ophthalmology.
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.
Bennett
Jeffrey L
JL
Department of Neurology, University of Colorado Health Sciences Center, Denver 80262, USA. jeffrey.bennett@uchsc.edu
D015509:Developmental Biology / Q000379:methods; D005314:Embryonic and Fetal Development / Q000235:genetics; D005123:Eye / Q000196:embryology; D005124:Eye Abnormalities / Q000235:genetics; D005128:Eye Diseases / Q000235:genetics*; D005821:Genetic Techniques; D006801:Humans; D008967:Molecular Biology; D009422:Nervous System Diseases / Q000235:genetics*; D009462:Neurology / Q000379:methods; D009885:Ophthalmology / Q000379:methods; D014795:Visual Pathways / Q000196:embryology