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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...

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Detalles Bibliográficos
Autores principales: Alsberge, Joseph B., Agarwal, Anita
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
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
Descripción
Sumario: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.