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Tang, P. Autosomal Dominant Optic Atrophy/Cataract. Encyclopedia. Available online: https://encyclopedia.pub/entry/6021 (accessed on 20 September 2026).
Tang P. Autosomal Dominant Optic Atrophy/Cataract. Encyclopedia. Available at: https://encyclopedia.pub/entry/6021. Accessed September 20, 2026.
Tang, Peter. "Autosomal Dominant Optic Atrophy/Cataract" Encyclopedia, https://encyclopedia.pub/entry/6021 (accessed September 20, 2026).
Tang, P. (2021, January 04). Autosomal Dominant Optic Atrophy/Cataract. In Encyclopedia. https://encyclopedia.pub/entry/6021
Tang, Peter. "Autosomal Dominant Optic Atrophy/Cataract." Encyclopedia. Web. 04 January, 2021.
Autosomal Dominant Optic Atrophy/Cataract
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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/autosomal-dominant-optic-atrophy-and-cataract

Autosomal dominant optic atrophy and cataract is an eye disorder that is characterized by impaired vision. Most affected individuals have decreased sharpness of vision (visual acuity) from birth, while others begin to experience vision problems in early childhood or later. In affected individuals, both eyes are usually affected equally. However, the severity of the vision loss varies widely, even among affected members of the same family, ranging from nearly normal vision to complete blindness.

genetic conditions

References

  1. Bagli E, Zikou AK, Agnantis N, Kitsos G. Mitochondrial Membrane Dynamics andInherited Optic Neuropathies. In Vivo. 2017 Jul-Aug;31(4):511-525. Review.
  2. Grau T, Burbulla LF, Engl G, Delettre C, Delprat B, Oexle K, Leo-Kottler B,Roscioli T, Krüger R, Rapaport D, Wissinger B, Schimpf-Linzenbold S. A novelheterozygous OPA3 mutation located in the mitochondrial target sequence resultsin altered steady-state levels and fragmented mitochondrial network. J Med Genet.2013 Dec;50(12):848-58. doi: 10.1136/jmedgenet-2013-101774.
  3. Lenaers G, Hamel C, Delettre C, Amati-Bonneau P, Procaccio V, Bonneau D,Reynier P, Milea D. Dominant optic atrophy. Orphanet J Rare Dis. 2012 Jul 9;7:46.doi: 10.1186/1750-1172-7-46. Review.
  4. Li Y, Li J, Jia X, Xiao X, Li S, Guo X. Genetic and Clinical Analyses of DOAand LHON in 304 Chinese Patients with Suspected Childhood-Onset Hereditary Optic Neuropathy. PLoS One. 2017 Jan 12;12(1):e0170090. doi:10.1371/journal.pone.0170090.
  5. Reynier P, Amati-Bonneau P, Verny C, Olichon A, Simard G, Guichet A,Bonnemains C, Malecaze F, Malinge MC, Pelletier JB, Calvas P, Dollfus H,Belenguer P, Malthièry Y, Lenaers G, Bonneau D. OPA3 gene mutations responsiblefor autosomal dominant optic atrophy and cataract. J Med Genet. 2004Sep;41(9):e110.
  6. Sergouniotis PI, Perveen R, Thiselton DL, Giannopoulos K, Sarros M, Davies JR,Biswas S, Ansons AM, Ashworth JL, Lloyd IC, Black GC, Votruba M. Clinical andmolecular genetic findings in autosomal dominant OPA3-related optic neuropathy.Neurogenetics. 2015 Jan;16(1):69-75. doi: 10.1007/s10048-014-0416-y.
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Subjects: Genetics & Heredity
Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register : Peter Tang
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Entry Collection: MedlinePlus
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Update Date: 04 Jan 2021
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