巴西一个大家族中的最佳卵黄样黄斑营养不良症。
Best vitelliform macular dystrophy in a large Brazilian family.
作者信息
de Souza Carolina Pádua Rocha, Mello Luiz Guilherme Marchesi, Gomez Fernando, Morizot Eduardo
机构信息
Benjamin Constant Institute (IBC), Av. Pasteur, 350 - Urca, Rio de Janeiro, Rio de Janeiro 22290-240 Brazil.
2Federal University of Espírito Santo (UFES), Vitória, Espírito Santo Brazil.
出版信息
Int J Retina Vitreous. 2019 Jan 30;5:6. doi: 10.1186/s40942-019-0156-0. eCollection 2019.
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.
背景
描述一个患有Best卵黄样黄斑营养不良的巴西家族的临床和多模态影像学表现。
方法
对一个巴西家族进行回顾性病历审查，并分析补充眼底图像（彩色摄影、自发荧光、荧光素血管造影和光学相干断层扫描）。
结果
7例患者在Best卵黄样黄斑营养不良的不同阶段有典型的黄斑病变。其中2例进行了眼电图检查，显示Arden比值异常。家系分析强烈提示为常染色体显性遗传。低视力主要与高龄、视网膜色素上皮萎缩和光感受器损伤有关。然而，在视力较好的患者中发现了视网膜下黄色沉积物。
结论
我们展示了巴西一个患有Best卵黄样黄斑营养不良家族的最大病例系列。多模态影像学分析对于确定视网膜异常很重要。视网膜色素上皮萎缩和光感受器外段丢失似乎是与严重视力损害相关的晚期但重要的发现。
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