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:: Volume 23, Number 2 (Spring 2017) ::
Horizon Med Sci 2017, 23(2): 165-168 Back to browse issues page
Leber’s Hereditary Optic Neuropathy: a Case Report
R. Daneshvar Kakhki
Neurology Department, Medical School, Kashan University of Medical Sciences, Kashan, Iran , redaneshvar@gmail.com
Abstract:   (341 Views)

Aims: One of the most prevalent mitochondrial genetic diseases is Leber disease. Most of the patients are with the bilateral ocular involvement, simultaneously in 25% and one after another in 75% of the patients with an average of 8-week involvement distance between two eyes. The aim of the study was to report a rare case of Leber disease with 11-year engagement distance between two eyes.  

Patient Profile: A 38 years old male patient, who had been hospitalized in autumn 2012 in Beheshti Hospital in Kashan, Iran, due to his left-eye vision loss, was studied. One day before referring to the hospital, his left-eye vision had gradually blurred, only could perceive light. The patient were with HBs Ag positive (Carrier), and was hypertensive from about one year before hospitalization. Based on the ophthalmoscopy results, the right-eye disc was lost and the left-eye disc was pale.

Findings: At first, the patient received methylprednisolone pulse therapy, while no treatment response was observed after a 2-week therapy. Based on the genetic assessments of peripheral blood cells, the homoplastic 14233 mutation was diagnosed, confirming the clinical suspicion of Leber disease (LHON). The patient received 100mg a day Q10 coenzyme and multivitamin.

Conclusion: The diagnosis of Leber hereditary optic neuropathy should be noticed in young men with bilateral optic atrophy.

Keywords: Leber Hereditary Optic Neuropathy, Optic Neuritis, Mitochondrial DNA, Mutation
Full-Text [PDF 474 kb]   (235 Downloads)    
Type of Study: Case report | Subject: Internal Medicine
Received: 2016/06/28 | Accepted: 2017/01/30 | Published: 2017/03/14
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DOI: 10.18869/acadpub.hms.23.2.165


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Daneshvar Kakhki R. Leber’s Hereditary Optic Neuropathy: a Case Report . Horizon Med Sci . 2017; 23 (2) :165-168
URL: http://hms.gmu.ac.ir/article-1-2544-en.html
Volume 23, Number 2 (Spring 2017) Back to browse issues page
مجله علمی پژوهشی افق دانش The Horizon of Medical Sciences
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