出版社：Consejo Superior de Investigaciones Científicas
摘要：A large number of rare pathologies affect the eye or sight. A possible classification of these is according to the tissue that is affected. We can, therefore, define three main types of rare ocular disorders: 1) neuro-ocular pathologies, which basically affects the retina and optic nerve, 2) corneal dystrophies and 3) pathologies caused by deficiencies in the development of the eyeball or any of its parts. In all of them there is a clear Mendelian genetic basis and, currently, there is almost no treatment for any of them. The aim of this article is to provide a review of this set of pathologies.
关键词：Distrofias hereditarias de la retina;nervio óptico;distrofias corneales;defectos del desarrollo ocular
其他关键词：Inherited retinal dystrophies;optic nerve;corneal dystrophies;disorders of eye development
