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Case ReportOpen Access
Leber's Hereditary Optic Neuropathy
Letchavanakul A 
,
Dechphongsaphilas W ,
Dhamcharee V
,
Dechphongsaphilas W ,
Dhamcharee V A case of Leber's hereditary optic neuropathy (LHON) in a healthy young man who
presented with a slow progressive visual loss in one eye and later developed a visual loss in the
other eye. There was no pre-existing symptom and no history of visual loss in other family members.
Mitochondrial DNA mutation at 11778 was found in the patient and his uneffected mother
and brother. Currently the availability of reliable molecular genetic testing has revolutionized the
diagnosis of LHON. LHON is a maternal inherited disorder that causes bilateral visual loss, predominantly
in young men. This disorder has been associated with point mutations in the mitochondrial
genome which constitute the different clinical phenotypes and prognosis. Genetic
counseling in families at risk is recommended.
Key word : Optic Neuropathy, Hereditary
presented with a slow progressive visual loss in one eye and later developed a visual loss in the
other eye. There was no pre-existing symptom and no history of visual loss in other family members.
Mitochondrial DNA mutation at 11778 was found in the patient and his uneffected mother
and brother. Currently the availability of reliable molecular genetic testing has revolutionized the
diagnosis of LHON. LHON is a maternal inherited disorder that causes bilateral visual loss, predominantly
in young men. This disorder has been associated with point mutations in the mitochondrial
genome which constitute the different clinical phenotypes and prognosis. Genetic
counseling in families at risk is recommended.
Key word : Optic Neuropathy, Hereditary
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