American journal of ophthalmology۲۰۲۶مرور نظام مندنمایه شده در PubMed
Maria Emfietzoglou, Gustavo Sakuno, Caroline Awh, Sandra Hoyek, Maria Anna Bantounou, Konstantinos G Baroutis, Irini Chatziralli, Dimitris Papaconstantinou, Panagiotis Theodossiadis, Alexander Charonis, Nimesh A Patel, Demetrios G Vavvas
چکیده
Danon disease is a rare X-linked disorder caused by pathogenic variants in the LAMP2 gene. It is characterized by severe cardiomyopathy, arrhythmias, and skeletal myopathy. Ophthalmic findings have been described but are often overlooked due to limited awareness of their prevalence and…
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DOI: 10.1016/j.ajo.2026.03.026