JAMA ophthalmology۲۰۲۶مطالعه مشاهده اینمایه شده در PubMed
Chloe M Stanton, Georg Ansari, Kristina Pfau, Theresa Lipsky, Mihail Halachev, Lukas Gerasimavicius, Camilla Drake, Joseph A Marsh, Caroline Hayward, Alexander Sumaroka, Bohdan Kousal, Petra Lišková, Mathieu Quinodoz, Carlo Rivolta, Tomas S Aleman, Artur V Cideciyan, Maximilian Pfau
چکیده
Doyne honeycomb retinal dystrophy or malattia leventinese (DHRD/ML) is an autosomal dominant retinal disorder caused by a single recurrent p.Arg345Trp (NM_001039348.3:c.1033C>T) variant in EFEMP1 and characterized by early-onset, nearly confluent, large central retinal drusen. Other variants in…
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DOI: 10.1001/jamaophthalmol.2026.3828