oogzenuw aandoeningen Hereditary optic atrophies
Conditions
Interventions
None listed
Sponsors
Academisch Medisch Centrum
Eligibility
Age
No minimum to 99 Years
Inclusion criteria
Inclusion criteria: • Clinical diagnosis or suspicion of hereditary optic neuropathy based on fundus examination supported with additional clinical examinations, such as optical coherence tomography, perimetry or visual evoked potentials • No underlying mutation detected with standard diagnostic panels which sequence most common disease-associated genes for hereditary optic neuropathies (In the second part of the study where we focus on secondary objectives, we will also include subjects with HON with a known mutation)
Exclusion criteria
Exclusion criteria: Patients with optic atrophy with a known etiology other than hereditary optic neuropathies, such as: • Vascular (e.g. arteritic and non-arteritic ischemic optic neuropathy) • Compressive ( e.g. secondary to papilledema, tumour, bony growth, thyroid eye disease, chiasmal compression, disc druses, increased intraocular pressure) • Inflammatory (e.g. systemic lupus erythematosus, Behcet*s disease, sarcoidosis, demyelination (MS)) • Infectious • Traumatic optic neuropathy • Metabolic (e.g. diabetes mellitus) • Neoplastic, • Radiation optic neuropathy • Toxic & nutritional (e.g. Medications such as ethambutol, amiodarone, antiretroviral drugs; alcohol, vitamin deficiencies). In some toxic optic neuropathies, toxic agents can precipitate neuropathy in an susceptible optic nerve with underlying genetic disorder. Selective cases where initial diagnosis is toxic optic neuropathy but clinical features suggest an underlying hereditary optic neuropathy will be also included in the study.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Identification of pathologic genetic variants in known disease associated genes or new disease associated genes in hereditary optic neuropathies. Clinical characterizations of hereditary optic neuropathies. | — |
Secondary
| Measure | Time frame |
|---|---|
| Not applicable. | — |
Countries
Netherlands
Outcome results
None listed