LEBER’S HEREDITARY OPTIC NEUROPATHY (LHON): A CASE REPORT
| dc.contributor.author | Napaporn Tananuvat | en_US |
| dc.contributor.author | Jitumporn Fuangk Fuangkaew | en_US |
| dc.contributor.author | Nantawit Pongmoragoat | en_US |
| dc.contributor.author | Wattana Navachareon | en_US |
| dc.date.accessioned | 2011-02-16T09:11:35Z | |
| dc.date.available | 2011-02-16T09:11:35Z | |
| dc.date.created | 2010-10-26 | en_US |
| dc.date.issued | 2010-10-26 | en_US |
| dc.description.abstract | Purpose To report the first case of Leber’s hereditary optic neuropathy (LHON) diagnosed in Maharaj Nakorn Chiang Mai Hospital. Methods Case report. Results A 13-year-old boy was referred for bilateral progressive painless visual loss. Ophthalmic examination revealed temporal disc pallor in the right eye and pseudoedema of the optic disc with peripapillary telangiectasia in the left eye. There was no staining or leakage on a fundus fluorescein angiogram. The visual field had bilateral cecocentral scotoma. On examination of the patient’s mitochondrial DNA from a blood sample, a point mutation 11778 was found. Conclusions LHON is a maternally inherited disorder, characterized by a bilateral painless simultaneous or sequential loss of vision, predominantly in young men. This disorder has been associated with point mutations in the mitochondrial genomes. As there is currently no treatment that improves the final visual outcome, long term management is mainly supportive. In this case, optical aids were prescribed and genetic counseling was given to the patient and other family members. Chiang Mai Med Bull 2005;44(3):115-120. | en_US |
| dc.identifier.citation | Chiang Mai Medical Journal; Vol.44 No.3 September 2005 (pages 85 - 120); 115 - 120 | en_US |
| dc.identifier.uri | https://imsear.searo.who.int/handle/123456789/130605 | |
| dc.language.iso | en_US | en_US |
| dc.publisher | Chiang Mai Medical Journal | en_US |
| dc.rights | Chiang Mai Medical Journal | en_US |
| dc.source.uri | https://thailand.digitaljournals.org/index.php/CMMJ/issue/archive | en_US |
| dc.source.uri | https://thailand.digitaljournals.org/index.php/CMMJ/article/view/826 | en_US |
| dc.title | LEBER’S HEREDITARY OPTIC NEUROPATHY (LHON): A CASE REPORT | en_US |
| dc.type | Case Reports | en_US |