首页> Acta ophthalmologica> Pigmentary retinopathy can indicate the presence of pathogenic LAMP2 variants even in somatic mosaic carriers with no additional signs of Danon disease.

Pigmentary retinopathy can indicate the presence of pathogenic LAMP2 variants even in somatic mosaic carriers with no additional signs of Danon disease.

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第一作者： Bohdan,Kousal

第一单位： Department of Ophthalmology, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.;Research Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.

作者： Bohdan,Kousal ^[1] ; Filip,Majer ^[2] ; Hana,Vlaskova ^[2] ; Lenka,Dvorakova ^[2] ; Lenka,Piherova ^[2] ; Martin,Meliska ^[3] ; Hana,Langrova ^[4] ; Tomas,Palecek ^[5] ; Milos,Kubanek ^[6] ; Alice,Krebsova ^[6] ; Jiri,Gurka ^[6] ; Veronika,Stara ^[7] ; Michel,Michaelides ^[8] ; Tomas,Kalina ^[9] ; Jakub,Sikora ^[10] ; Petra,Liskova ^[1]

作者单位： Department of Ophthalmology, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.;Research Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic. ^[1] Research Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic. ^[2] Department of Ophthalmology, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic. ^[3] Department of Ophthalmology, Faculty of Medicine in Hradec Kralove, Charles University and University Hospital Hradec Kralove, Hradec Kralove, Czech Republic. ^[4] 2nd Department of Medicine - Department of Cardiovascular Medicine, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic. ^[5] Department of Cardiology, Institute for Clinical and Experimental Medicine, Prague, Czech Republic. ^[6] Department of Paediatrics, Second Faculty of Medicine, Charles University and Motol University Hospital, Prague, Czech Republic. ^[7] Moorfields Eye Hospital NHS Foundation Trust, London, UK.;UCL Institute of Ophthalmology, University College London, London, UK. ^[8] Department of Paediatric Haematology and Oncology, Childhood Leukaemia Investigation Prague, Second Faculty of Medicine, Charles University and Motol University Hospital, Prague, Czech Republic. ^[9] Research Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.;Institute of Pathology, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic. ^[10]

关键词 LAMP2 Danon disease autofluorescence pigmentary retinopathy somatic mosaicism spectral-domain optical coherence tomography