Clinical diversity in patients with Schnyder corneal dystrophy-a novel and known UBIAD1 pathogenic variants.

Sarosiak, Anna; Udziela, Monika; Sciezynska, Aneta; Ozieblo, Dominika; Wawrzynowska, Anna; Szaflik, Jacek P; Oldak, Monika

Sarosiak, Anna; Udziela, Monika; Sciezynska, Aneta; Ozieblo, Dominika; Wawrzynowska, Anna; Szaflik, Jacek P; Oldak, Monika.

Afiliação

Sarosiak A; Department of Histology and Embryology, Center of Biostructure Research, Medical University of Warsaw, T. Chalubinskiego 5, 02-004, Warsaw, Poland.
Udziela M; Postgraduate School of Molecular Medicine, Medical University of Warsaw, Warsaw, Poland.
Sciezynska A; Department of Ophthalmology, Medical University of Warsaw, Warsaw, Poland.
Ozieblo D; Department of Histology and Embryology, Center of Biostructure Research, Medical University of Warsaw, T. Chalubinskiego 5, 02-004, Warsaw, Poland.
Wawrzynowska A; Department of Histology and Embryology, Center of Biostructure Research, Medical University of Warsaw, T. Chalubinskiego 5, 02-004, Warsaw, Poland.
Szaflik JP; Postgraduate School of Molecular Medicine, Medical University of Warsaw, Warsaw, Poland.
Oldak M; Department of Histology and Embryology, Center of Biostructure Research, Medical University of Warsaw, T. Chalubinskiego 5, 02-004, Warsaw, Poland.

Graefes Arch Clin Exp Ophthalmol ; 256(11): 2127-2134, 2018 Nov.

Article em En | MEDLINE | ID: mdl-30084067

Assuntos

Distrofias Hereditárias da Córnea/genética; Dimetilaliltranstransferase/genética; Mutação de Sentido Incorreto; Polimorfismo de Nucleotídeo Único; Adolescente; Adulto; Idoso; Distrofias Hereditárias da Córnea/diagnóstico; Feminino; Humanos; Masculino; Microscopia Confocal; Pessoa de Meia-Idade; Linhagem; Reação em Cadeia da Polimerase; Tomografia de Coerência Óptica; Acuidade Visual/fisiologia; Adulto Jovem

Palavras-chave

Confocal microscopy; Optical coherent tomography; Pathogenic variant; Schnyder corneal dystrophy; UBIAD1

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Distrofias Hereditárias da Córnea / Mutação de Sentido Incorreto / Polimorfismo de Nucleotídeo Único / Dimetilaliltranstransferase Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adolescent / Adult / Aged / Female / Humans / Male / Middle aged Idioma: En Ano de publicação: 2018 Tipo de documento: Article

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