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Leber's hereditary optic neuropathy masquerading as optic neuritis with spontaneous visual recovery.
Clin Exp Optom 2014; 97(1):84-6CE

Abstract

We report a case of Leber's hereditary optic neuropathy (LHON) masquerading as optic neuritis with late visual recovery. A 28-year-old man had gradual visual loss in both eyes for two weeks. Visual acuity was 0.4 in the right eye and 0.7 in the left. Fundus examination revealed hyperaemic discs in each eye. Fluorescein angiography revealed dye leakage at both optic discs in the late phase. Static perimetry (Humphrey 30-2) revealed bilateral relative central scotomata. Magnetic resonance imaging of the optic nerves was normal and his lumbar puncture showed normal opening pressure. He received steroid pulse therapy for three days. Nevertheless, vision in his right eye deteriorated to 0.1 one month later and left vision worsened to 0.05 six months later. Fifteen months after onset, his vision began to improve. At 21 months, his vision recovered to 0.9 R and 1.0 L. Peripheral blood DNA sequencing revealed 14484 mutation of mitochondrial DNA (mtDNA). Visual recovery can occur in patients with Leber's hereditary optic neuropathy with mtDNA 14484 mutation. LHON could be misdiagnosed as optic neuritis in some cases. Molecular examination of mtDNA mutation can confirm the diagnosis of LHON in clinically controversial patients. We should keep in mind the diagnosis of LHON when optic neuritis shows poor response to pulse therapy.

Authors+Show Affiliations

Department of Ophthalmology, Cheng Hsin General Hospital, Taipei, Taiwan, Republic of China.No affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

23905692

Citation

Hsu, Tsui-Kang, et al. "Leber's Hereditary Optic Neuropathy Masquerading as Optic Neuritis With Spontaneous Visual Recovery." Clinical & Experimental Optometry, vol. 97, no. 1, 2014, pp. 84-6.
Hsu TK, Wang AG, Yen MY, et al. Leber's hereditary optic neuropathy masquerading as optic neuritis with spontaneous visual recovery. Clin Exp Optom. 2014;97(1):84-6.
Hsu, T. K., Wang, A. G., Yen, M. Y., & Liu, J. H. (2014). Leber's hereditary optic neuropathy masquerading as optic neuritis with spontaneous visual recovery. Clinical & Experimental Optometry, 97(1), pp. 84-6. doi:10.1111/cxo.12100.
Hsu TK, et al. Leber's Hereditary Optic Neuropathy Masquerading as Optic Neuritis With Spontaneous Visual Recovery. Clin Exp Optom. 2014;97(1):84-6. PubMed PMID: 23905692.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Leber's hereditary optic neuropathy masquerading as optic neuritis with spontaneous visual recovery. AU - Hsu,Tsui-Kang, AU - Wang,An-Guor, AU - Yen,May-Yung, AU - Liu,Jorn-Hon, Y1 - 2013/08/01/ PY - 2011/11/26/received PY - 2013/02/05/revised PY - 2013/02/22/accepted PY - 2013/8/3/entrez PY - 2013/8/3/pubmed PY - 2014/8/26/medline KW - Leber's hereditary optic neuropathy KW - mtDNA 14484 mutation KW - optic neuritis papilloedema KW - visual recovery SP - 84 EP - 6 JF - Clinical & experimental optometry JO - Clin Exp Optom VL - 97 IS - 1 N2 - We report a case of Leber's hereditary optic neuropathy (LHON) masquerading as optic neuritis with late visual recovery. A 28-year-old man had gradual visual loss in both eyes for two weeks. Visual acuity was 0.4 in the right eye and 0.7 in the left. Fundus examination revealed hyperaemic discs in each eye. Fluorescein angiography revealed dye leakage at both optic discs in the late phase. Static perimetry (Humphrey 30-2) revealed bilateral relative central scotomata. Magnetic resonance imaging of the optic nerves was normal and his lumbar puncture showed normal opening pressure. He received steroid pulse therapy for three days. Nevertheless, vision in his right eye deteriorated to 0.1 one month later and left vision worsened to 0.05 six months later. Fifteen months after onset, his vision began to improve. At 21 months, his vision recovered to 0.9 R and 1.0 L. Peripheral blood DNA sequencing revealed 14484 mutation of mitochondrial DNA (mtDNA). Visual recovery can occur in patients with Leber's hereditary optic neuropathy with mtDNA 14484 mutation. LHON could be misdiagnosed as optic neuritis in some cases. Molecular examination of mtDNA mutation can confirm the diagnosis of LHON in clinically controversial patients. We should keep in mind the diagnosis of LHON when optic neuritis shows poor response to pulse therapy. SN - 1444-0938 UR - https://www.unboundmedicine.com/medline/citation/23905692/Leber's_hereditary_optic_neuropathy_masquerading_as_optic_neuritis_with_spontaneous_visual_recovery_ L2 - https://doi.org/10.1111/cxo.12100 DB - PRIME DP - Unbound Medicine ER -