Age-related macular disease: It is now well established that the aetiology of age-related macular disease (the commonest cause of visual disability in developed countries) has a very strong genetic basis. In the future, disease modification – either through treatment or through lifestyle modification – might make disease stratification from molecular analysis a possibility.
Primary open angle glaucoma: Large-scale population studies are helping to clarify the genetic contribution to POAG. In the future it is possible that this will be a valuable adjunct to early diagnosis and screening.
Treatments for rare diseases: Gene replacement therapies represent one of the most exciting opportunities for the treatment of genetic disease. Ophthalmology – specifically in the field of inherited retinal disease – is at the forefront of developments. In 2017, the FDA approved a gene replacement therapy for one form of LCA caused by mutations the in RPE65 gene. Clinical trials are under way for several other inherited retinal disorders, including choroideremia and X-linked retinitis pigmentosa.