Rare eye diseases are mostly chronic diseases that can manifest themselves in any age group. The diagnosis is often demanding and lengthy. This consultation offers patients with rare eye diseases specific care by the expertise of the Eye Clinic in modern imaging (OCT, Angio-OCT, FLIO), electrophysiology, visual field measurement, refraction measurement and neuro-ophthalmological examinations for a detailed clinical diagnosis. Genetic investigations additionally support the diagnosis. We also arrange contacts with advice centres for low vision assistance, experts in social insurance and institutions patient support groups. Finally, the exact diagnosis, also thanks to the international networking of the team at the Eye Clinic, allows participation in clinical studies and new therapeutic approaches.
The 'Rare Eye Diseases' service offers state of the art care for patients affected by retinitis pigmentosa (RP), liver congenital amaurosis (LCA), cone dystrophy, Stargardt's disease, Best's disease, exudative vitreoretinopathy (FEVR), optic neuropathy (LHON), optic atrophy, corneal dystrophy, congenital cataract, aniridia, coloboma, microphthalmia and other rare eye diseases.
Since rare eye diseases also occur in multisystemic diseases (e.g. mitochondriopathies, ciliopathies) or developmental disorders (e.g. Peter's anomaly, Axenfeld-Rieger syndrome), the Ophthalmology also works in interdisciplinary cooperation with the Centre for Rare Diseases at the Inselspital to provide the best way of diagnosis and optimal care.