Leber hereditary optic neuropathy. The Dutch approach

Abstract

Aims/Purpose: To share the structure of care for patients with Leber Hereditary Optic neuropathy (LHON) in the Netherlands. This includes the role of Expertise centers in coordinating rapid diagnosis and start of treatment, as well at the introduction of a specific database to track data of patients with LHON.Methods: Dutch LHON Expertise centres are organized to act as central points for patient referrals from regional hospitals with the aim to speed up the diagnostics and treatment of LHON patients. The database of Dutch LHON patients has been created and is online today, to provide demographical, epidemiological, clinical characteristics and effects of treatment with Idebenone on disease progression.Results: Three LHON Expertise centers provide fast diagnostic, coaching and treatment services in the whole of the Netherlands. Patient referral is done easily due to the small geography. A DNA test on primary and non‐primary mtDNA mutations is performed as standard, including the DNAJC30 gen. Additional parameters are obtained to monitor disease progression: Visual Acuity Score by ETDRS letters chart, HRR colour tests, OCT of ganglion cell layer and retinal neurofibral layer, Visual field by Goldmann kinetic perimetry or Humphry static perimetry. All patients have access to a social worker. They are provided with a flyer about LHON disease and contact details of the relevant patient association.Conclusion: A thoroughly organized clinical path for LHON patients provides rapid diagnostics and start of treatment. Patients referrals is done easily and treatment delay minimized. The centralization of Dutch LHON patients in three expertise centres enables us to maintain a central database with important clinical and epidemiological data. This information is relevant to optimize current therapy options with Idebenone and also for supporting future studies on novel therapy options.