Phenotypic expression variability in Best Disease: a purpose of a series of cases
| Autor: | Gabriella Nogueira Moraes, Eduardo Henrique Morizot Leite, Alléxya Affonso Antunes Marcos, Gabriela dos Santos Souza Barros |
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| Rok vydání: | 2018 |
| Předmět: |
Pediatrics
medicine.medical_specialty Best disease Relatos de casos Diagnostic methods genetic structures business.industry Fenótipo Genetic counseling Eletrodiagnóstico Disease Clinical manifestation eye diseases Distrofia macular viteliforme/genética Best Vitelliform Macular Dystrophy Ophthalmology lcsh:Ophthalmology Expression (architecture) Eletrofisiologia lcsh:RE1-994 Medicine Surgery sense organs First-degree relatives business |
| Zdroj: | Revista Brasileira de Oftalmologia, Vol 77, Iss 2, Pp 102-104 |
| ISSN: | 0034-7280 |
| DOI: | 10.5935/0034-7280.20180023 |
| Popis: | The objective of the following work is to document the phenotypic expression variability in Best Disease in first-degree relatives. The information was collected by assessing medical notes, interviewing the patient and obtaining photographic record of the diagnostic methods to which the patient was submitted. Data was analyzed along with a thorough review of the literature. A series of cases were reported in which the patient presenting the phenotypic characteristics of the disease has first degree relatives without ophthalmic findings during examination, but present an abnormal pattern on the electro-oculogram (EOG). Our article reveals the importance of electrophysiological exams in the diagnosis of Best vitelliform macular dystrophy, including the prevention of its clinical manifestation (autosomal dominant), providing concrete subsidies for genetic counseling. |
| Databáze: | OpenAIRE |
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