Phenotypic expression variability in Best Disease: a purpose of a series of cases
Rev. bras. oftalmol; 77 (2), 2018
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 ...
Registros Médicos, Entrevista, Fotografía, Distrofia Macular Viteliforme/genética, Distrofia Macular Viteliforme/diagnóstico, Fenotipo, Electrooculografía, Electrorretinografía, Mutación/genética, Electrofisiología, Angiografía con Fluoresceína, Tomografía de Coherencia Óptica, Bestrofinas, Canales de Cloruro, Genes Recesivos