A Typical Case Presentation with Spontaneous Visual Recovery in Patient Diagnosed with Leber Hereditary Optic Neuropathy due to Rare Point Mutation in <i>MT-ND4</i> Gene (<i>m.11253T>C</i>) and Literature Review.

Liutkeviciene, Rasa; Sidaraite, Agne; Kuliaviene, Lina; Glebauskiene, Brigita; Jurkute, Neringa; Aluzaite-Baranauskiene, Lina; Gelzinis, Arvydas; Zemaitiene, Reda

A Typical Case Presentation with Spontaneous Visual Recovery in Patient Diagnosed with Leber Hereditary Optic Neuropathy due to Rare Point Mutation in MT-ND4 Gene (m.11253T>C) and Literature Review.

Liutkeviciene, Rasa; Sidaraite, Agne; Kuliaviene, Lina; Glebauskiene, Brigita; Jurkute, Neringa; Aluzaite-Baranauskiene, Lina; Gelzinis, Arvydas; Zemaitiene, Reda.

Afiliação

Liutkeviciene R; Department of Ophthalmology, Lithuanian University of Health Sciences, Medical Academy, Eiveniu 2 str., Kaunas LT-50161, Lithuania.
Sidaraite A; Neuroscience Institute, Lithuanian University of Health Sciences, Medical Academy, Eiveniu str. 2, Kaunas LT-50161, Lithuania.
Kuliaviene L; Department of Ophthalmology, Lithuanian University of Health Sciences, Medical Academy, Eiveniu 2 str., Kaunas LT-50161, Lithuania.
Glebauskiene B; Department of Ophthalmology, Lithuanian University of Health Sciences, Medical Academy, Eiveniu 2 str., Kaunas LT-50161, Lithuania.
Jurkute N; Department of Ophthalmology, Lithuanian University of Health Sciences, Medical Academy, Eiveniu 2 str., Kaunas LT-50161, Lithuania.
Aluzaite-Baranauskiene L; Moorfields Eye Hospital, Genetics department, 162 City Road, EC1V2PD, London, United Kingdom.]].
Gelzinis A; Department of Ophthalmology, Lithuanian University of Health Sciences, Medical Academy, Eiveniu 2 str., Kaunas LT-50161, Lithuania.
Zemaitiene R; Department of Ophthalmology, Lithuanian University of Health Sciences, Medical Academy, Eiveniu 2 str., Kaunas LT-50161, Lithuania.

Medicina (Kaunas) ; 57(3)2021 Feb 26.

Article em En | MEDLINE | ID: mdl-33652663

Assuntos

Atrofia Óptica Hereditária de Leber; DNA Mitocondrial/genética; Humanos; Masculino; Mitocôndrias; Mutação; Atrofia Óptica Hereditária de Leber/diagnóstico; Atrofia Óptica Hereditária de Leber/tratamento farmacológico; Atrofia Óptica Hereditária de Leber/genética; Mutação Puntual

Palavras-chave

LHON; Leber hereditary optic neuropathy; aetiology; diagnosis; treatment

Texto completo

Imprimir

XML

PubMed Links

Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Atrofia Óptica Hereditária de Leber Tipo de estudo: Diagnostic_studies Limite: Humans / Male Idioma: En Ano de publicação: 2021 Tipo de documento: Article

Texto completo

Imprimir

XML

PubMed Links

Buscar no Google