Molecular genetic basis of primary inherited optic neuropathies

Votruba, Marcela ORCID: https://orcid.org/0000-0002-7680-9135 2004. Molecular genetic basis of primary inherited optic neuropathies. Eye 18 (11) , pp. 1126-1132. 10.1038/sj.eye.6701570

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Abstract

Aim To review the molecular genetic basis of primary inherited optic neuropathies. Methods Medline and Embase search. Results Inherited optic neuropathies are a genetically diverse group of disorders that present with reduced visual acuity and the clinical appearance of optic atrophy. The inherited optic neuropathies may be sporadic or familial, in which case the mode of inheritance may be Mendelian (autosomal dominant, autosomal recessive, X-linked recessive) or non-Mendelian (mitochondrial). Two genes for dominantly inherited optic atrophy have been mapped (OPA1 and OPA4), of which the gene has been identified in one (OPA1). A gene for recessive optic atrophy (OPA3) has also been identified. X-linked optic atrophy (OPA2) has been mapped but to date no gene has been identified. Mutations in mitochondrial DNA have been identified in Leber's hereditary optic neuropathy. Conclusions Mutations in genes from both the nuclear and mitochondrial genomes appear to be responsible. Mitochondrial dysfunction, in the broadest sense, is emerging as central to the pathogenesis of this group of conditions.

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Optometry and Vision Sciences Neuroscience and Mental Health Research Institute (NMHRI)
Subjects:	Q Science > QP Physiology R Medicine > RE Ophthalmology
Uncontrolled Keywords:	inherited optic neuropathy, Leber hereditary optic neuropathy (LHON): retinal ganglion cell (RGC) OPA1
Additional Information:	Presented in part at the XXXIII Cambridge Ophthalmological Symposium, Cambridge, UK, September, 2003: 'The optic nerve'.
Publisher:	Nature Publishing Group
ISSN:	0950-222X
Last Modified:	18 Oct 2022 13:16
URI:	https://orca.cardiff.ac.uk/id/eprint/13296

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