Set of hereditary diseases whose predominant differential manifestation is the involvement of the optic nerve. Among them, the phenotypes of infantile cerebellar retinal degeneration (ACO2), autonomic sensory neuropathy type VIB (SLC25A46), and Wolfram Syndrome (WFS1) stand out.
1/10.000-50.000
Applies to clinical suspicion of optic neuropathy of hereditary origin in nuclear genes. It does not include optic neuropathies of mitochondrial origin.
Clinical suspicion of hereditary optic neuropathy
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Turnaround time (TAT): 25 days
Ref. S-202008640
Updated (dd/mm/yy): 24/03/2023
Priority Genes : Genes where there is sufficient evidence (clinical and functional) to consider them associated with the disease; they are included in the clinical practice guidelines.
Secondary Genes: Genes related to the disease, but with a lower level of evidence or that constitute sporadic cases.
* Candidate Genes: Not enough evidence in humans, but potentially associated with the disease.
