Related Experiment Video
Updated: Jan 29, 2026

Author Spotlight: Ex Vivo OCT-Based Multimodal Imaging of Human Donor Eyes for Research into Age-Related Macular Degeneration
Published on: May 26, 2023
Best vitelliform macular dystrophy in a large Brazilian family
Carolina Pádua Rocha de Souza1,2, Luiz Guilherme Marchesi Mello2, Fernando Gomez1
1Benjamin Constant Institute (IBC), Av. Pasteur, 350 - Urca, Rio de Janeiro, Rio de Janeiro 22290-240 Brazil.
Background:
To describe the clinical and multimodal imaging findings of a Brazilian family with Best vitelliform macular dystrophy.
Methods:
A retrospective chart review of a Brazilian family was conducted and complementary fundus images (color photography, autofluorescence, fluorescein angiography and optical coherence tomography) were analyzed.
Results:
Seven patients had typical macular lesions at different stages of Best vitelliform macular dystrophy. Electrooculography was performed in two of them and showed abnormal Arden ratio. The pedigree strongly suggests an autosomal dominant inheritance. Low visual acuity was mainly associated with advanced age, retinal pigment epithelium atrophy, and photoreceptors damage. However, yellow subretinal deposits were evidenced in patients with better visual acuity.
Conclusion:
We present the largest case series of a Brazilian family with Best vitelliform macular dystrophy. Multimodal imaging analysis is important to determine retinal abnormalities. Retinal pigment epithelium atrophy and loss of photoreceptors outer segments seem to be a late but important finding related to severe visual acuity impairment.
Related Concept Videos
Protein Families
Protein Families
Gene Families
Occasionally these regions can be adapted to take on new roles within the organism, becoming novel genes...
Gene Families
Family Therapy
Strategic Family Therapy
Strategic family therapy emphasizes resolving communication barriers and improving problem-solving abilities...
Satellite Stem Cells and Muscular Dystrophy

