A novel mutation of BEST1 gene in Best disease.

Bestrophins / genetics Chloride Channels / genetics Electrooculography Eye Proteins / genetics Fluorescein Angiography Humans Mutation Tomography, Optical Coherence Vitelliform Macular Dystrophy / diagnosis
Best vitelliform macular dystrophy genetic testing maculopathy retina

Journal

European journal of ophthalmology
ISSN: 1724-6016
Titre abrégé: Eur J Ophthalmol
Pays: United States
ID NLM: 9110772

Informations de publication

Date de publication:
May 2021
Historique:
pubmed: 24 4 2020
medline: 20 8 2021
entrez: 24 4 2020
Statut: ppublish

Résumé

To describe a new genetic variation of BEST1 gene in Best vitelliform macular dystrophy. A patient with bilateral multiple retinal yellowish lesions at the posterior pole underwent fluorescein angiography, fundus autofluorescence, optical coherence tomography, electrooculogram and blood sample for genetic testing. A diagnosis of a Best vitelliform macular dystrophy was made. Heterozygous mutation c.76G > A (p.Gly26Ser) in exon 2 of the BEST1 gene was found. These findings contribute to expand the mutation spectrum of BEST1 gene.

Identifiants

DOI: 10.1177/1120672120920536 PMID: 32321300
pubmed: 32321300
doi: 10.1177/1120672120920536
doi:

Substances chimiques

BEST1 protein, human 0
Bestrophins 0
Chloride Channels 0
Eye Proteins 0

Types de publication

Case Reports Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

NP93-NP95

Auteurs

Claudio Campa (C)

Eye Clinic, Arcispedale Sant' Anna University Hospital, Ferrara, Italy.
ORCID: 0000-0002-1141-7501

Francesco Parmeggiani (F)

Eye Clinic, Arcispedale Sant' Anna University Hospital, Ferrara, Italy.

Rossella Spena (R)

Department of Morphology, Surgery and Experimental Medicine, University of Ferrara, Ferrara, Italy.
Istituto internazionale per la Ricerca e Formazione in Oftalmologia (IRFO), Forlì, Italy.
Department of Ophthalmology, Ospedali Privati Forlì, Forlì, Italy.

Davide Ognibene (D)

UOL of Medical Genetics, Arcispedale Sant'Anna University Hospital and University of Ferrara, Ferrara, Italy.

Ilaria Passerini (I)

S.O.D. Diagnostica Genetica, Azienda Ospedaliero Universitaria Careggi, Firenze, Italy.

Francesca Gualandi (F)

UOL of Medical Genetics, Arcispedale Sant'Anna University Hospital and University of Ferrara, Ferrara, Italy.

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Classifications MeSH

questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines membranaires › Protéines de transport membranaire › Canaux ioniques › Canaux chlorure › Bestrophines › A novel mutation of BEST1 gene in Best disease.
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines membranaires › Protéines de transport membranaire › Canaux ioniques › Canaux chlorure › A novel mutation of BEST1 gene in Best disease.
questionsmedicales.fr › Diagnostic › Techniques et procédures diagnostiques › Électrodiagnostic › Mesures des mouvements oculaires › Électro-oculographie › A novel mutation of BEST1 gene in Best disease.
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines de l'oeil › A novel mutation of BEST1 gene in Best disease.
questionsmedicales.fr › Diagnostic › Techniques et procédures diagnostiques › Techniques de diagnostic ophtalmologique › Angiographie fluorescéinique › A novel mutation of BEST1 gene in Best disease.
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › A novel mutation of BEST1 gene in Best disease.
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › A novel mutation of BEST1 gene in Best disease.
questionsmedicales.fr › Techniques d'investigation › Imagerie optique › Tomographie optique › Tomographie par cohérence optique › A novel mutation of BEST1 gene in Best disease.
questionsmedicales.fr › Malformations et maladies congénitales, héréditaires et néonatales › Maladies génétiques congénitales › Maladies héréditaires de l'oeil › Dystrophie maculaire vitelliforme › A novel mutation of BEST1 gene in Best disease.