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.

Afiliación

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 en En | MEDLINE | ID: mdl-31673222

Asunto(s)

Pueblo Asiatico/genética; GTP Fosfohidrolasas/genética; Pérdida Auditiva Central/complicaciones; Pérdida Auditiva Central/genética; Mutación/genética; Atrofia Óptica Autosómica Dominante/complicaciones; Atrofia Óptica Autosómica Dominante/genética; Adolescente; Adulto; Niño; Preescolar; Estudios de Cohortes; Femenino; Fondo de Ojo; Humanos; Japón; Masculino; Atrofia Óptica Autosómica Dominante/fisiopatología; Linaje; Campos Visuales; Adulto Joven

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Atrofia Óptica Autosómica Dominante / Pueblo Asiatico / GTP Fosfohidrolasas / Pérdida Auditiva Central / Mutación Tipo de estudio: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male País/Región como asunto: Asia Idioma: En Revista: Mol Vis Asunto de la revista: BIOLOGIA MOLECULAR / OFTALMOLOGIA Año: 2019 Tipo del documento: Article País de afiliación: Japón

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