Genetic testing in patients with retinitis pigmentosa: Features of unsolved cases.

Birtel, Johannes; Gliem, Martin; Oishi, Akio; Müller, Philipp L; Herrmann, Philipp; Holz, Frank G; Mangold, Elisabeth; Knapp, Michael; Bolz, Hanno J; Charbel Issa, Peter

Birtel, Johannes; Gliem, Martin; Oishi, Akio; Müller, Philipp L; Herrmann, Philipp; Holz, Frank G; Mangold, Elisabeth; Knapp, Michael; Bolz, Hanno J; Charbel Issa, Peter.

Afiliação

Birtel J; Department of Ophthalmology, University of Bonn, Bonn, Germany.
Gliem M; Center for Rare Diseases Bonn (ZSEB), University of Bonn, Bonn, Germany.
Oishi A; Department of Ophthalmology, University of Bonn, Bonn, Germany.
Müller PL; Center for Rare Diseases Bonn (ZSEB), University of Bonn, Bonn, Germany.
Herrmann P; Oxford Eye Hospital, Oxford University Hospitals NHS Foundation Trust, and Nuffield Laboratory of Ophthalmology, Department of Clinical Neurosciences, University of Oxford, Oxford, UK.
Holz FG; Department of Ophthalmology, University of Bonn, Bonn, Germany.
Mangold E; Department of Ophthalmology and Visual Sciences, Kyoto University Graduate School of Medicine, Kyoto, Japan.
Knapp M; Department of Ophthalmology, University of Bonn, Bonn, Germany.
Bolz HJ; Center for Rare Diseases Bonn (ZSEB), University of Bonn, Bonn, Germany.
Charbel Issa P; Department of Ophthalmology, University of Bonn, Bonn, Germany.

Clin Exp Ophthalmol ; 47(6): 779-786, 2019 08.

Article em En | MEDLINE | ID: mdl-30977268

Assuntos

Testes Genéticos; Retinose Pigmentar/diagnóstico; Adulto; Eletrorretinografia; Feminino; Sequenciamento de Nucleotídeos em Larga Escala; Humanos; Masculino; Pessoa de Meia-Idade; Fenótipo; Retinose Pigmentar/genética; Retinose Pigmentar/fisiopatologia; Estudos Retrospectivos; Tomografia de Coerência Óptica; Acuidade Visual/fisiologia; Campos Visuais/fisiologia

Palavras-chave

genetic testing; inherited retinal dystrophy; next-generation sequencing; phenotyping; retinitis pigmentosa

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Retinose Pigmentar / Testes Genéticos Tipo de estudo: Observational_studies / Prognostic_studies Limite: Adult / Female / Humans / Male / Middle aged Idioma: En Revista: Clin Exp Ophthalmol Assunto da revista: OFTALMOLOGIA Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Alemanha

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