Your browser doesn't support javascript.
loading
Phenotypic expression variability in Best Disease: a purpose of a series of cases / Variabilidade de expressão Fenotípica na Doença de Best: a propósito de uma série de casos
Marcos, Alléxya Affonso Antunes; Barros, Gabriela dos Santos Souza; Moraes, Gabriella Nogueira; Leite, Eduardo Henrique Morizot.
  • Marcos, Alléxya Affonso Antunes; Instituto Benjamin Constant. Rio de Janeiro. BR
  • Barros, Gabriela dos Santos Souza; Instituto Benjamin Constant. Rio de Janeiro. BR
  • Moraes, Gabriella Nogueira; Instituto Benjamin Constant. Rio de Janeiro. BR
  • Leite, Eduardo Henrique Morizot; Instituto Benjamin Constant. Rio de Janeiro. BR
Rev. bras. oftalmol ; 77(2): 102-104, mar.-abr. 2018. graf
Article in English | LILACS | ID: biblio-899121
ABSTRACT
Abstract 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.
RESUMO
Resumo O objetivo do presente trabalho é a documentação da variabilidade de expressão fenotípica da Doença de Best em parentes de primeiro grau. As informações foram obtidas por meio de revisão do prontuário, entrevista com o paciente e registro fotográfico dos métodos diagnósticos aos quais os pacientes foram submetidos. Dados foram analisados junto a uma extensa revisão da literatura. Relatamos uma série de casos, no qual o paciente que apresenta as alterações fenotípicas da doença tem familiares de primeiro grau sem alterações ao exame oftalmológico, porém os mesmos apresentam padrão anormal de eletro-oculograma (EOG). O nosso artigo revela a importância dos exames eletrofisiológicos no diagnóstico da distrofia macular viteliforme de Best, inclusive no que se refere à prevenção de sua manifestação clínica (autossômica dominante), fornecendo subsídios concretos para o aconselhamento genético.
Subject(s)


Full text: Available Index: LILACS (Americas) Main subject: Vitelliform Macular Dystrophy Limits: Adolescent / Adult / Female / Humans / Male Language: English Journal: Rev. bras. oftalmol Journal subject: Ophthalmology Year: 2018 Type: Article Affiliation country: Brazil Institution/Affiliation country: Instituto Benjamin Constant/BR

Similar

MEDLINE

...
LILACS

LIS


Full text: Available Index: LILACS (Americas) Main subject: Vitelliform Macular Dystrophy Limits: Adolescent / Adult / Female / Humans / Male Language: English Journal: Rev. bras. oftalmol Journal subject: Ophthalmology Year: 2018 Type: Article Affiliation country: Brazil Institution/Affiliation country: Instituto Benjamin Constant/BR