Optic neuropathy [30 genes]

The term optic neuropathy encompasses a group of disorders characterized by degeneration of the optic nerve, clinically manifested by reduced visual acuity, impaired color vision, and visual field defects. The clinical presentation may be acute or progressive and, in some cases, may be associated with neurological or systemic manifestations.

Hereditary optic neuropathies constitute a clinically and genetically heterogeneous group of disorders, including conditions such as dominant optic atrophy and other forms associated with alterations in cellular function, energy metabolism, mitochondrial dynamics and maintenance, and neuronal homeostasis.

Hereditary optic neuropathy comprises a group of rare disorders with a prevalence that varies according to the specific subtype. The overall prevalence is low (<1/10,000), with dominant optic atrophy, primarily associated with pathogenic variants in OPA1, representing one of the most common forms within this group, with an estimated prevalence of approximately 1 in 20,000–25,000 individuals.

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