Literature DB >> 15272763

Case report: A Thai patient with Leber's hereditary optic neuropathy linked to mitochondrial DNA 14484 mutation.

Wanicha Chuenkongkaew1, Patcharee Lertrit, Rungnapa Suphavilai.   

Abstract

A young Thai male presented with bilateral visual loss and disc pallor. The 14484 mutation responsible for Leber's hereditary optic neuropathy (LHON) was identified on blood mitochondrial analysis. His visual loss was more severe than the visual loss described in Caucasian and Japanese patients and showed no improvement. He had no other identifiable mutations related to LHON nor any associated neurological disorder. This is the first case report of LHON with the 14484 mutation in a Thai patient.

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Year:  2004        PMID: 15272763

Source DB:  PubMed          Journal:  Southeast Asian J Trop Med Public Health        ISSN: 0125-1562            Impact factor:   0.267


  2 in total

1.  The unique characteristics of Thai Leber hereditary optic neuropathy: analysis of 30 G11778A pedigrees.

Authors:  Nopasak Phasukkijwatana; Wanicha L Chuenkongkaew; Rungnapa Suphavilai; Bhoom Suktitipat; Sarinee Pingsuthiwong; Ngamkae Ruangvaravate; La-Ongsri Atchaneeyasakul; Sukhuma Warrasak; Anuchit Poonyathalang; Thanyachai Sura; Patcharee Lertrit
Journal:  J Hum Genet       Date:  2006-02-14       Impact factor: 3.172

2.  Profiling the mitochondrial proteome of Leber's Hereditary Optic Neuropathy (LHON) in Thailand: down-regulation of bioenergetics and mitochondrial protein quality control pathways in fibroblasts with the 11778G>A mutation.

Authors:  Aung Win Tun; Sakdithep Chaiyarit; Supannee Kaewsutthi; Wanphen Katanyoo; Wanicha Chuenkongkaew; Masayoshi Kuwano; Takeshi Tomonaga; Chayanon Peerapittayamongkol; Visith Thongboonkerd; Patcharee Lertrit
Journal:  PLoS One       Date:  2014-09-12       Impact factor: 3.240

  2 in total

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