This report describes general characteristics of the group of diseases classified as optic atrophy. Optic atrophy (or optic neuropathy) is a genetically heterogeneous disorder, with multiple genes and mapped loci. A comprehensive list of subtypes, as defined by OMIM, can be found by following the link in the "OMIM phenotypic series" section, below. For descriptions of work done in flies, follow links in the table below; see also the human disease model report 'optic atrophy syndromes, OPA1-related' (FBhh0000642) and ' optic atrophy with neurological involvement' (FBhh0001592).
All currently identified genes implicated in optic atrophy appear to be associated with mitochondrial organization or function (Strachan et al., 2021; pubmed:34867178).
[updated Oct. 2024 by FlyBase; FBrf0222196]
Optic atrophy refers to the death of the retinal ganglion cell axons that comprise the optic nerve. Optic atrophy is an end stage that arises from myriad causes of optic nerve damage anywhere along the path from the retina to the lateral geniculate. Since the optic nerve transmits retinal information to the brain, optic atrophy is associated with vision loss. Optic atrophy is somewhat of a misnomer as atrophy implies disuse and optic nerve damage is better termed optic neuropathy. [http://eyewiki.aao.org/Optic_Atrophy]
