Rare diseases of sigth

Abstract

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.