A novel mutation of BEST1 gene in Best disease
| Autor: | Francesca Gualandi, Claudio Campa, Ilaria Passerini, Rossella Spena, Davide Ognibene, Francesco Parmeggiani |
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| Rok vydání: | 2020 |
| Předmět: |
retina
medicine.medical_specialty Bestrophins Posterior pole Vitelliform macular dystrophy NO genetic testing maculopathy Best vitelliform macular dystrophy Chloride Channels Electrooculography Eye Proteins Fluorescein Angiography Humans Mutation Tomography Optical Coherence Vitelliform Macular Dystrophy 03 medical and health sciences chemistry.chemical_compound 0302 clinical medicine Ophthalmology Genetic variation medicine Tomography Genetic testing medicine.diagnostic_test business.industry Retinal General Medicine Fluorescein angiography medicine.disease eye diseases chemistry Optical Coherence Mutation (genetic algorithm) 030221 ophthalmology & optometry business 030217 neurology & neurosurgery |
| Zdroj: | European Journal of Ophthalmology. 31:NP93-NP95 |
| ISSN: | 1724-6016 1120-6721 |
| DOI: | 10.1177/1120672120920536 |
| Popis: | Purpose To describe a new genetic variation of BEST1 gene in Best vitelliform macular dystrophy. Methods 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. Results 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. Conclusion These findings contribute to expand the mutation spectrum of BEST1 gene. |
| Databáze: | OpenAIRE |
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