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Late-onset Stargardt disease
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 d...
Autores principales: | , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8866146/ https://www.ncbi.nlm.nih.gov/pubmed/35243166 http://dx.doi.org/10.1016/j.ajoc.2022.101429 |
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author | Alsberge, Joseph B. Agarwal, Anita |
author_facet | Alsberge, Joseph B. Agarwal, Anita |
author_sort | Alsberge, Joseph B. |
collection | PubMed |
description | 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 ABCA4 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. |
format | Online Article Text |
id | pubmed-8866146 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | Elsevier |
record_format | MEDLINE/PubMed |
spelling | pubmed-88661462022-03-02 Late-onset Stargardt disease Alsberge, Joseph B. Agarwal, Anita Am J Ophthalmol Case Rep Case Report 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 ABCA4 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. Elsevier 2022-02-16 /pmc/articles/PMC8866146/ /pubmed/35243166 http://dx.doi.org/10.1016/j.ajoc.2022.101429 Text en © 2022 The Authors https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/). |
spellingShingle | Case Report Alsberge, Joseph B. Agarwal, Anita Late-onset Stargardt disease |
title | Late-onset Stargardt disease |
title_full | Late-onset Stargardt disease |
title_fullStr | Late-onset Stargardt disease |
title_full_unstemmed | Late-onset Stargardt disease |
title_short | Late-onset Stargardt disease |
title_sort | late-onset stargardt disease |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8866146/ https://www.ncbi.nlm.nih.gov/pubmed/35243166 http://dx.doi.org/10.1016/j.ajoc.2022.101429 |
work_keys_str_mv | AT alsbergejosephb lateonsetstargardtdisease AT agarwalanita lateonsetstargardtdisease |