Cases

Within the context of the Ophthalmic Genetic Clinic, the diagnosis of Inherited Eye Diseases (IED) requires an integrated approach. This can not only determine clinical management and treatment, but also direct genetic counselling, which is valuable both for the patient and relevant to their wider family. Such an approach requires an accurate history (including a detailed three generation family history), as well as detailed clinical examination, imaging and investigation. Increasingly, such an process requires the integration of genomic testing via Next Generation Sequencing with can include multigene panels, clinical exomes or even whole genome sequencing. The presentation will include a range of examples to span the breadth of IED including developmental disorders (such as microphthalmia/anophthalmia and congenital cataract), anterior segment disorders as well as inherited retinal disorders (both childhood and adult onset). This will illustrate the power of a multidisciplinary and integrated apporach to the diagnosis of IED.