Abstract
AbstractRare eye diseases are considered if the prevalence is lower than 1/2000 in the general population and are usually recognized in paediatric ophthalmologic practices. Even if not all ophthalmologists see these ocular diseases, the model mostly genetic, can be useful to treat other ocular anomalies in pathologies that are more common. We will expose new insights in congenital aniridia, a congenital panocular disorder characterized by complete or partial iris hypoplasia and foveal hypoplasia, resulting in nystagmus and reduced visual acuity. High‐resolution foveal imaging by spectral‐domain optical coherence tomography (SD‐OCT) may improve the diagnosis. Moreover, Leber congenital amaurosis is a new model for gene therapy and opens new therapeutic options. We will also provide update for congenital anterior segment malformations, vernal keratoconjunctivitis, albinism and OVCR in children.
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