Structural and functional analysis of retinal vasculature in HANAC syndrome with a novel intronic COL4A1 mutation.

Faure, Céline; Castrale, Cindy; Benabed, Anaïs; Cognard, Pauline; Lezé, Romain; Castro-Farias, Daniela; Gérard, Marion; Louapre, Céline; Paques, Michel

Faure, Céline; Castrale, Cindy; Benabed, Anaïs; Cognard, Pauline; Lezé, Romain; Castro-Farias, Daniela; Gérard, Marion; Louapre, Céline; Paques, Michel.

Afiliação

Faure C; Ophthalmology department, Saint Martin hospital, Ramsay Générale de Santé, 18 rue des Roquemonts, 14000 Caen, France; Clinical Investigation Center 1423, Quinze-Vingts hospital, INSERM-DHOS, Paris F-75012, France. Electronic address: celinefaureoph@gmail.com.
Castrale C; Nephrology department, Saint Martin hospital, Ramsay Générale de Santé, 18 rue des Roquemonts, 14000 Caen, France.
Benabed A; Nephrology department, Saint Martin hospital, Ramsay Générale de Santé, 18 rue des Roquemonts, 14000 Caen, France.
Cognard P; Ophthalmology department, Saint Martin hospital, Ramsay Générale de Santé, 18 rue des Roquemonts, 14000 Caen, France.
Lezé R; Ophthalmology department, Saint Martin hospital, Ramsay Générale de Santé, 18 rue des Roquemonts, 14000 Caen, France.
Castro-Farias D; Clinical Investigation Center 1423, Quinze-Vingts hospital, INSERM-DHOS, Paris F-75012, France.
Gérard M; Genetics department, CHU de Caen-Hôpital Clémenceau, avenue Georges Clémenceau, France.
Louapre C; Sorbonne University, APHP, Pitié-Salpêtrière Hospital, Department of neurology, CIC Neurosciences, Paris Brain Institute, Paris, France.
Paques M; Clinical Investigation Center 1423, Quinze-Vingts hospital, INSERM-DHOS, Paris F-75012, France.

Microvasc Res ; 145: 104450, 2023 01.

Article em En | MEDLINE | ID: mdl-36372235

Assuntos

Aneurisma; Cãibra Muscular; Humanos; Adulto; Pessoa de Meia-Idade; Idoso; Cãibra Muscular/complicações; Cãibra Muscular/genética; Colágeno Tipo IV/genética; Íntrons; Aneurisma/complicações; Aneurisma/genética; Vasos Retinianos; Mutação; Tomografia de Coerência Óptica

Palavras-chave

Adaptive optics ophthalmoscopy; Aneurysms and muscle cramps (HANAC); COL4A1; Hereditary angiopathy with nephropathy; Neurovascular coupling; Optical coherence tomography angiography; Retinal vessels

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Aneurisma / Cãibra Muscular Limite: Adult / Aged / Humans / Middle aged Idioma: En Revista: Microvasc Res Ano de publicação: 2023 Tipo de documento: Article País de publicação: Estados Unidos

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