Autosomal dominant optic atrophy with <i>OPA1</i> gene mutations accompanied by auditory neuropathy and other systemic complications in a Japanese cohort.

Maeda-Katahira, Akiko; Nakamura, Natsuko; Hayashi, Takaaki; Katagiri, Satoshi; Shimizu, Satoko; Ohde, Hisao; Matsunaga, Tatsuo; Kaga, Kimitaka; Nakano, Tadashi; Kameya, Shuhei; Matsuura, Tomokazu; Fujinami, Kaoru; Iwata, Takeshi; Tsunoda, Kazushige

Autosomal dominant optic atrophy with OPA1 gene mutations accompanied by auditory neuropathy and other systemic complications in a Japanese cohort.

Maeda-Katahira, Akiko; Nakamura, Natsuko; Hayashi, Takaaki; Katagiri, Satoshi; Shimizu, Satoko; Ohde, Hisao; Matsunaga, Tatsuo; Kaga, Kimitaka; Nakano, Tadashi; Kameya, Shuhei; Matsuura, Tomokazu; Fujinami, Kaoru; Iwata, Takeshi; Tsunoda, Kazushige.

Afiliação

Maeda-Katahira A; Division of Vision Research, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, Tokyo, Japan.
Nakamura N; Department of Ophthalmology, Tokyo Metropolitan Ohtsuka Hospital, Tokyo, Japan.
Hayashi T; Division of Vision Research, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, Tokyo, Japan.
Katagiri S; Department of Ophthalmology, The University of Tokyo, Tokyo, Japan.
Shimizu S; Department of Ophthalmology, The Jikei University School of Medicine, Tokyo, Japan.
Ohde H; Department of Ophthalmology, The Jikei University School of Medicine, Tokyo, Japan.
Matsunaga T; Department of Ophthalmology, Teikyo University, Tokyo, Japan.
Kaga K; Department of Ophthalmology, Keio University, Tokyo, Japan.
Nakano T; Division of Hearing and Balance Research, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, Tokyo, Japan.
Kameya S; Department of Otolaryngology, National Hospital Organization Tokyo Medical Center, Tokyo, Japan.
Matsuura T; National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, Tokyo, Japan.
Fujinami K; Department of Ophthalmology, The Jikei University School of Medicine, Tokyo, Japan.
Iwata T; Department of Ophthalmology, Nippon Medical School Chiba Hokusoh Hospital, Chiba, Japan.
Tsunoda K; Department of Laboratory Medicine, The Jikei University School of Medicine, Tokyo, Japan.

Mol Vis ; 25: 559-573, 2019.

Article em En | MEDLINE | ID: mdl-31673222

Assuntos

Povo Asiático/genética; GTP Fosfo-Hidrolases/genética; Perda Auditiva Central/complicações; Perda Auditiva Central/genética; Mutação/genética; Atrofia Óptica Autossômica Dominante/complicações; Atrofia Óptica Autossômica Dominante/genética; Adolescente; Adulto; Criança; Pré-Escolar; Estudos de Coortes; Feminino; Fundo de Olho; Humanos; Japão; Masculino; Atrofia Óptica Autossômica Dominante/fisiopatologia; Linhagem; Campos Visuais; Adulto Jovem

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Atrofia Óptica Autossômica Dominante / Povo Asiático / GTP Fosfo-Hidrolases / Perda Auditiva Central / Mutação Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male País/Região como assunto: Asia Idioma: En Revista: Mol Vis Assunto da revista: BIOLOGIA MOLECULAR / OFTALMOLOGIA Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Japão

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