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迟发性斯塔加特病

Late-onset Stargardt disease.

作者信息

Alsberge Joseph B, Agarwal Anita

机构信息

Department of Ophthalmology, Northwest Permanente, Portland, OR, USA.

West Coast Retina Medical Group, San Francisco, CA, USA.

出版信息

Am J Ophthalmol Case Rep. 2022 Feb 16;26:101429. doi: 10.1016/j.ajoc.2022.101429. eCollection 2022 Jun.

DOI:10.1016/j.ajoc.2022.101429
PMID:35243166
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8866146/
Abstract

PURPOSE

To report a case of late-onset Stargardt disease, discuss the differential diagnosis, and review the role of vitamin A supplementation in Stargardt disease.

OBSERVATIONS

A 60-year-old man presented with blurry vision in the right eye for the past two years. Current medications included a daily multivitamin containing vitamin A and age-related eye disease study vitamins. Examination revealed bilateral macular atrophy and scattered yellow flecks which were intensely hyperautofluorescent. Fluorescein angiography revealed a dark choroid. Full-field electroretinogram showed normal rod and cone responses, and genetic testing revealed two pathogenic gene variations confirming the diagnosis of late-onset Stargardt disease.

CONCLUSIONS

Stargardt disease is typically described in young patients but may develop later in adulthood and masquerade as age-related macular degeneration and a number of other conditions. Though the evidence is limited, there is concern that high-dose vitamin A supplementation could lead to progression of Stargardt disease. Avoidance of high-dose vitamin A supplementation should be discussed with Stargardt disease patients.

摘要

目的

报告一例迟发性斯塔加特病病例,讨论鉴别诊断,并综述维生素A补充剂在斯塔加特病中的作用。

观察结果

一名60岁男性在过去两年中出现右眼视力模糊。目前的药物包括每日服用的含维生素A的多种维生素和年龄相关性眼病研究用维生素。检查发现双侧黄斑萎缩和散在的黄色斑点,这些斑点具有强烈的高自发荧光。荧光素血管造影显示脉络膜暗。全视野视网膜电图显示视杆和视锥反应正常,基因检测发现两个致病基因变异,确诊为迟发性斯塔加特病。

结论

斯塔加特病通常在年轻患者中描述,但也可能在成年后期发病,并伪装成年龄相关性黄斑变性和许多其他疾病。尽管证据有限,但人们担心高剂量补充维生素A可能导致斯塔加特病进展。应与斯塔加特病患者讨论避免高剂量补充维生素A的问题。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/020e/8866146/3b5736fcbe4d/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/020e/8866146/3b5736fcbe4d/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/020e/8866146/3b5736fcbe4d/gr1.jpg

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