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Careggi University Hospital – HCP (the largest polyclinic Hospital in Florence) is one of the main Hospital in Italy. The HCP provides the management of the most significant rare eye disorders (inherited retinal and choroidal dystrophies), keratoconus, corneal dystrophies, and inherited optic neuropathies. The patients are referred by the peripheral structures of the National Health Services (local Clinics and Hospitals).
The Center provides a comprehensive management of the patients with rare eye disorders based on the collaboration of different professionals who interact to assure a global care of the patient. The patients are aware of who is providing their care and a continuous relationship between the patients and the referring physician is assured if requested by the patient. Mother language translators for different languages are assured on demand. An informative document about the activities and the organization of the Center is available online and is provided to the patient during genetic counseling before genetic testing. The patients are examined by an ohthamologist with a specific background for rare disorders and genetic eye diseases and then undergo a series of specifically refined investigations like automatic perimetry, last generation OCT (Optical Coherence Tomography), OCT Angiography, Wide Field Retinography, Wide Field Autofluorescence, Adaptive Optics Imaging, Electrophysiological Tests, Corneal Map, Anterior Segment OCT. Moreover the patients are addressed to Genetic Counseling and to molecular genetic analysis for the detection of possible pathogenic mutations.
If possible the complications of the disease are medically or surgically treated. The patients are informed of the possible research developments in the field and are considered for being included in ongoing clinical trials. The evaluation of syndromic cases is shared among ophthalmologists and other specialists like nephrologists, neurologists, internal medicine specialists, etc. Finally the Center works in close connection with the patients' association Retina Italia. Some representatives of the Association are usually present in the hospital area just close the rooms where the patients receive their medical consultation. The medical and laboratory staff of the Center usually participates to the patients' association Meetings offering explanation about different medical issues and being available to answer to patients' question.
Andrea Sodi, member of WG1, WG5, WG6
Ophthalmologist and ERN-EYE Hospital Coordinator, Member of the Board of the Italian Society of Genetic Ophthalmology and presently Secretary of the same Association; member of the Board for rare diseases and coordinator for rare eye diseases of the Tuscany Region; member of the board of the French speaking Society of Ophthalmic Genetics.
Careggi University Hospital, University of Florence, Italy
Largo Brambilla 3, 50134, Florence, Italy
055 794 111; 055 794 7790
Tel :(+ 39) 055 794 111