Journals / Güncel Retina Dergisi / 2022 / Cilt: 6 - Sayı: 2

Dominant Optic Atrophy

Dominant Optik Atrofi

Pages
88–91
Publication Date
2022-10-17
DOI
—
🏛️Bibliographic metadata and full text access for this article are provided via DergiPark.
DergiPark Record ↗
✨

AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

Currently there are no effective and approved therapies for DOA.

📌 3 Key Takeaways

🎯
Objective & Hypothesis:Dominant optic atrophy (DOA) is the most common hereditary optic neuropathy.
📊
Key Findings & Data:It characterized by insidious and progressive central visual loss.
💡
Conclusion & Impact:Currently there are no effective and approved therapies for DOA.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

Abstract

Dominant optic atrophy (DOA) is the most common hereditary optic neuropathy. It characterized by insidious and progressive central visual loss. Retinal ganglion cells and their descending axons selectively affected. Usually only the ocular system is affected but extraocular manifestations such as sensorineural hearing loss, myophathy, ataxia, peripheral neurophathy can occur. In the presence of extraocular involvement, the disease is called ‘’DOA plus syndrome’’. Currently there are no effective and approved therapies for DOA.

Özet

Dominant optik atrofi (DOA) en sık görülen herediter optik nöropatidir. Santral görme duyusunun sinsi ve progresif olarak azalmasıyla karakterizedir. Seçici olarak retina ganglion hücreleri ve aksonları etkilenir. Sıklıkla sadece okuler sistem etkilenir ancak sensörinöral işitme kaybı, miyopati, ataksi, periferal nöropati gibi eşlik eden ekstraokuler bulgular görülebilir. Extraokuler etkilenim varlığında hastalık ‘’DOA plus sendrom’’ olarak isimlendirilir. Günümüzde DOA ‘nin etkin ve onaylı bir tedavisi bulunmamaktadır.

🔖

Cite This Article

ÇETİN, E. N., ÜN, E. Ş., ÇETİN, G. O. (2022). Dominant Optic Atrophy. Güncel Retina Dergisi, Cilt: 6 - Sayı: 2, 88–91. https://ajindex.com/articles/528134

📄 Full Text PDF Viewer

📄

PDF görüntüleyici hazırlanıyor...

References (13)

  1. Kjer P. Infantile optic atrophy with dominant mode of inheritance: a clinical and genetic study of 19 Danish families. Acta Ophtalmol Suppl 1959;164(54):1-147
  2. Yu-Wai-Man P, Chinnery PF. Dominant optic atrophy: novel OPA 1 mutations and revise prevalence estimates. Ophtalmology 2013;120(8):1712
  3. Yu-Wai-Man P, Griffiths PG, Burke A, et al. The prevalence and natural history of dominant optic atrophy due to OPA 1 mutations. Ophtalmology 2010;117(8):1538-46
  4. Le Rux B, Lenears G, Zanlonghi X, et al. OPA 1:516 unique variants and 831 patients registered in an updated centralized Variome database. Orphanet J Rare Dis.2019;14(1):214 5- Amati-Bonneau P, Milea D, Bonneau D, et al. OPA 1-associated disorders phenotypes and pathophysiology. Int J Biochem Cell Biol 2009;41(10):1855-65
  5. Chon AC, Toomes C, Potter C, et al. Autosomal dominant optic atrohy: penetrance and expressivity in patients with OPA 1 mutations. Am J Ophtalmol 2007;143(4):656-62
  6. Almind GJ, Ek J, Rosenberg T, et al. Dominant optic atrophy in Denmark report of 15 novel mutations in OPA 1, using a strategy with a detection rate of 90%. BMC Med Genet 2012;13(1):65 8 - Puomila A, Huoponen K, Mäntyjärvi M, Hämäläinen P, Paananen R, Sankila EM, et al. Dominant optic atrophy: correlation between clinical and molecular genetic studies. Acta Ophthalmol Scand. 2005;83(3):337-46
  7. Eiberg H, Kjer B, Kjer P, Rosenberg T. Dominant optic atrophy (OPA 1) mapped to chromosome 3q region. I. Linkage analysis. Hum Mol. Genet. 1994;3(6):977-80 10- Carelli V, Ross-Cisneros FN, Sadun AA. Mitochondrial dysfunction as a cause of optic neuropathies. Prog Retin Eye Res. 2004;23(1):53-89
  8. Newman NJ, Biousse V. Heeditary optic neuropathies. Eye (Lond). 2004;18(11):1144-60
  9. Leaners G, Hamel C, Delettre C, Amati-Bonneau P, Procaccio V, Bonneau D, et al. Dominant optic atrophy. Orphanet J Rare Dis. 2012;46(7):1172- 86
  10. Landrum MJ, Lee JM, Riley GR, Jang W, Rubinstein WS, Church DM, Maglot DR. ClinVar: public archive of relationships among sequence variation and human phenotype. Nucleic Acids Res. 2014;42(D1):980-5
  11. Delettre C, Lenears G, Griffoin JM, Gigarel N, Lorenzo C, Belenguer P, et al. Nuclear gene opa 1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy. Nat Genet. 2000;26(2):207-10
  12. Reynier P, Amati-Bonneau P, Verny C, et al. OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract. J Med Genet. 2004;41(9):e110
  13. Yhalo