Advertisement

Dominant Optic Atrophy

  • An-Guor Wang
Chapter

Abstract

A 28-year-old male patient was referred to us from another ophthalmologist for bilateral optic neuropathy with undetermined cause. According to the patient, his vision was about 6/20 to 6/15 OU when he was checked in the first grade of elementary school. Since then, he has felt a gradual decrease of his vision. He had received a visual field examination at the referring hospital which revealed a relative central scotoma in both eyes, with a mean deviation of −4.46 dB in the right eye and −4.47 dB in the left eye. He was otherwise healthy with no systemic diseases. Family history was unremarkable except for an aunt with poor vision since childhood.

References

  1. 1.
    Delettre C, Lenaers G, Pelloquin L, Belenguer P, Hamel CP. OPA1 (Kjer type) dominant optic atrophy: a novel mitochondrial disease. Mol Genet Metab. 2002;75:97–107.CrossRefPubMedPubMedCentralGoogle Scholar
  2. 2.
    Johnsto RL, Seller MJ, Behnam JT, Burdon MA, Spalton DJ. Dominant optic atrophy. Refining the clinical diagnostic criteria in light of genetic linkage studies. Ophthalmology. 1999;106:123–8.CrossRefGoogle Scholar
  3. 3.
    Votruba M, Fitzke FW, Carter A, Bhattacharya SS, Moore AT. Clinical features in affected individuals from 21 pedigrees with dominant optic atrophy. Arch Ophthalmol. 1998;116:315–58.CrossRefGoogle Scholar
  4. 4.
    Votruba M, Thiselton D, Bhattacharya SS. Optic disc morphology of patients with OPA1 autosomal dominant optic atrophy. Br J Ophthalmol. 2003;87(1):48–53.CrossRefPubMedPubMedCentralGoogle Scholar
  5. 5.
    Elenius V. Rod thresholds in dominantly inherited juvenile optic atrophy. Ophthalmologica. 1991;202:208–12.CrossRefPubMedGoogle Scholar
  6. 6.
    Smith DP. Diagnostic criteria in dominantly inherited juvenile optic atrophy. A report of three new families. Am J Optom Physiol Optic. 1972;49:183–200.CrossRefGoogle Scholar
  7. 7.
    Kjer P, Jensen OA, Klinken L. Histopathology of the eye, optic nerve and brain in a case of dominant optic atrophy. Acta Ophthalmol. 1983;61:300–12.CrossRefGoogle Scholar
  8. 8.
    Eiberg H, Kjer B, Kjer P, Rosenberg T. Dominant optic atrophy (OPA1) mapped to chromosome 3q region. I. Linkage analysis. Hum Mol Genet. 1994;3(6):977–80.CrossRefPubMedGoogle Scholar
  9. 9.
    Alexander C, Votruba M, Pesch UE, Thiselton DL, Mayer S, Moore A, Rodriguez M, Kellner U, Leo-Kottler B, Auburger G, et al. OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28. Nat Genet. 2000;26(2):211–5.CrossRefPubMedGoogle Scholar
  10. 10.
    Delettre C, Lenaers G, Griffoin JM, Gigarel N, Lorenzo C, Belenguer P, Pelloquin L, Grosgeorge J, Turc-Carel C, Perret E, et al. Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy. Nat Genet. 2000;26(2):207–10.CrossRefPubMedGoogle Scholar
  11. 11.
    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;7:46.CrossRefPubMedPubMedCentralGoogle Scholar
  12. 12.
    Ferre M, Bonneau D, Milea D, Chevrollier A, Verny C, Dollfus H, Ayuso C, Defoort S, Vignal C, Zanlonghi X, et al. Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel OPA1 mutations. Hum Mutat. 2009;30(7):E692–705.CrossRefPubMedGoogle Scholar
  13. 14.
    Newman NJ, Biousse V. Hereditary optic neuropathies. Eye (Lond). 2004;18(11):1144–60.CrossRefGoogle Scholar

Copyright information

© Springer Nature Singapore Pte Ltd. 2018

Authors and Affiliations

  • An-Guor Wang
    • 1
  1. 1.Department of OphthalmologyTaipei Veterans General Hospital, National Yang-Ming University School of Medicine, Yun-San Ophthalmology Education Research FoundationTaipeiTaiwan

Personalised recommendations