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Optic atrophy

Definition:

Hereditary optic atrophy (OPA) is a group of neurodegenerative disorders characterized by a sudden or gradual loss of retinal ganglion cells function. OPA results from degeneration of the retinal ganglion cells whose axons form the optic nerve. Symptoms include a variable association of decreased visual acuity, visual field defects, and color vision abnormalities. All nonsyndromic OPAs characterized to date result from defects in genes encoding mitochondria-related proteins. The most frequent forms of nonsyndromic OPA are autosomal dominant OPA1-linked OPA (OPA1) and mitochondrial DNA-linked, maternally inherited Leber hereditary optic neuropathy (LHON). By contrast, autosomal recessive forms of optic atrophies (arOAs) are less frequent, and most cases are syndromic (e.g., OPA3 and OPA7). Isolated or nonsyndromic arOAs are believed to be extremely rare.

References:

[1]. Bianca Hartmann, et al. Homozygous YME1L1 mutation causes mitochondriopathy with optic atrophy and mitochondrial network fragmentation. Elife. 2016 Aug 6;5:e16078. [Content Brief]

[2]. Claire Angebault, et al. Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies. Am J Hum Genet. 2015 Nov 5;97(5):754-60. [Content Brief]

[3]. Leonardo Caporali, et al. ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy. Ann Neurol. 2020 Jul;88(1):18-32. [Content Brief]

[4]. Massimo Zeviani, et al. OPA1 mutations and mitochondrial DNA damage: keeping the magic circle in shape. Brain. 2008 Feb;131(Pt 2):314-7. [Content Brief]

[5]. Metodi Dimitrov Metodiev, et al. Mutations in the tricarboxylic acid cycle enzyme, aconitase 2, cause either isolated or syndromic optic neuropathy with encephalopathy and cerebellar atrophy. J Med Genet. 2014 Dec;51(12):834-8. [Content Brief]

[6]. Nicole J Van Bergen, et al. Mitochondrial oxidative phosphorylation compensation may preserve vision in patients with OPA1-linked autosomal dominant optic atrophy. PLoS One. 2011;6(6):e21347. [Content Brief]

[7]. Patrick Yu-Wai-Man, et al. Mitochondrial optic neuropathies - disease mechanisms and therapeutic strategies. Prog Retin Eye Res. 2011 Mar;30(2):81-114. [Content Brief]

[8]. Sylvain Hanein, et al. TMEM126A, encoding a mitochondrial protein, is mutated in autosomal-recessive nonsyndromic optic atrophy. Am J Hum Genet. 2009 Apr;84(4):493-8. [Content Brief]

[9]. Sylvie Gerber, et al. Mutations in DNM1L, as in OPA1, result in dominant optic atrophy despite opposite effects on mitochondrial fusion and fission. Brain. 2017 Oct 1;140(10):2586-2596. [Content Brief]

[10]. Valentina Del Dotto, et al. SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder. J Clin Invest. 2020 Jan 2;130(1):108-125. [Content Brief]

[11]. Valerio Carelli, et al. Retinal ganglion cell neurodegeneration in mitochondrial inherited disorders. Biochim Biophys Acta. 2009 May;1787(5):518-28. [Content Brief]

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