Leber's hereditary optic neuropathy: case report and literature review
CONTEXT: Leber's hereditary optic neuropathy is an important cause of progressive painless visual loss among young male patients. OBJECTIVE: To report on a case of a young patient with a clinical and neurophysiological condition suggestive of Leber's hereditary optic neuropathy, confirmed...
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| Format: | Article |
| Language: | English |
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Associação Paulista de Medicina
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| Series: | São Paulo Medical Journal |
| Subjects: | |
| Online Access: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1516-31802004000600010&lng=en&tlng=en |
| _version_ | 1819295726123876352 |
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| author | Hélio Afonso Ghizoni Teive André Ribeiro Troiano Salmo Raskin Lineu César Werneck |
| author_facet | Hélio Afonso Ghizoni Teive André Ribeiro Troiano Salmo Raskin Lineu César Werneck |
| author_sort | Hélio Afonso Ghizoni Teive |
| collection | DOAJ |
| description | CONTEXT: Leber's hereditary optic neuropathy is an important cause of progressive painless visual loss among young male patients. OBJECTIVE: To report on a case of a young patient with a clinical and neurophysiological condition suggestive of Leber's hereditary optic neuropathy, confirmed by genetic testing. CASE REPORT: We describe a 17-year-old male with progressive bilateral visual loss. Two maternal uncles had had similar patterns of visual loss. The patient had a history of smoking and alcohol abuse. Neuro-ophthalmological examination revealed visual acuity of 20/800 in both eyes, with decreased direct and consensual pupillary light reflexes. Fundus examination demonstrated pale optic discs. The visual evoked potential test showed signs of conduction disturbances in both optic nerves and campimetric study showed complete visual loss in all fields of both eyes. A diagnosis of bilateral optic neuropathy with a clinical suspicion of Leber's hereditary optic neuropathy was made. A blood sample was submitted to genetic analysis in relation to the principal mutations of this disorder, and homoplasmic mutation in 11778 was detected, thereby confirming the diagnosis of Leber's hereditary optic neuropathy. |
| first_indexed | 2024-12-24T04:46:47Z |
| format | Article |
| id | doaj.art-4f69aad8f0c64eef8c09603a633d886c |
| institution | Directory Open Access Journal |
| issn | 1806-9460 |
| language | English |
| last_indexed | 2024-12-24T04:46:47Z |
| publisher | Associação Paulista de Medicina |
| record_format | Article |
| series | São Paulo Medical Journal |
| spelling | doaj.art-4f69aad8f0c64eef8c09603a633d886c2022-12-21T17:14:40ZengAssociação Paulista de MedicinaSão Paulo Medical Journal1806-9460122627627910.1590/S1516-31802004000600010S1516-31802004000600010Leber's hereditary optic neuropathy: case report and literature reviewHélio Afonso Ghizoni Teive0André Ribeiro Troiano1Salmo Raskin2Lineu César Werneck3Universidade Federal do ParanáUniversidade Federal do ParanáGenetika LaboratoryUniversidade Federal do ParanáCONTEXT: Leber's hereditary optic neuropathy is an important cause of progressive painless visual loss among young male patients. OBJECTIVE: To report on a case of a young patient with a clinical and neurophysiological condition suggestive of Leber's hereditary optic neuropathy, confirmed by genetic testing. CASE REPORT: We describe a 17-year-old male with progressive bilateral visual loss. Two maternal uncles had had similar patterns of visual loss. The patient had a history of smoking and alcohol abuse. Neuro-ophthalmological examination revealed visual acuity of 20/800 in both eyes, with decreased direct and consensual pupillary light reflexes. Fundus examination demonstrated pale optic discs. The visual evoked potential test showed signs of conduction disturbances in both optic nerves and campimetric study showed complete visual loss in all fields of both eyes. A diagnosis of bilateral optic neuropathy with a clinical suspicion of Leber's hereditary optic neuropathy was made. A blood sample was submitted to genetic analysis in relation to the principal mutations of this disorder, and homoplasmic mutation in 11778 was detected, thereby confirming the diagnosis of Leber's hereditary optic neuropathy.http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1516-31802004000600010&lng=en&tlng=enOptic neuropathyOptic nerve diseasesOptic atrophyMitochondrial DNAVisual acuity |
| spellingShingle | Hélio Afonso Ghizoni Teive André Ribeiro Troiano Salmo Raskin Lineu César Werneck Leber's hereditary optic neuropathy: case report and literature review São Paulo Medical Journal Optic neuropathy Optic nerve diseases Optic atrophy Mitochondrial DNA Visual acuity |
| title | Leber's hereditary optic neuropathy: case report and literature review |
| title_full | Leber's hereditary optic neuropathy: case report and literature review |
| title_fullStr | Leber's hereditary optic neuropathy: case report and literature review |
| title_full_unstemmed | Leber's hereditary optic neuropathy: case report and literature review |
| title_short | Leber's hereditary optic neuropathy: case report and literature review |
| title_sort | leber s hereditary optic neuropathy case report and literature review |
| topic | Optic neuropathy Optic nerve diseases Optic atrophy Mitochondrial DNA Visual acuity |
| url | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1516-31802004000600010&lng=en&tlng=en |
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