Pigmentary retinopathy can indicate the presence of pathogenic LAMP2 variants even in somatic mosaic carriers with no additional signs of Danon disease.
Kousal B, Majer F, Vlaskova H, Dvorakova L, Piherova L, Meliska M, Langrova H, Palecek T, Kubanek M, Krebsova A, Gurka J, Stara V, Michaelides M, Kalina T, Sikora J, Liskova P.
Kousal B, et al. Among authors: langrova h.
Acta Ophthalmol. 2021 Feb;99(1):61-68. doi: 10.1111/aos.14478. Epub 2020 Jun 13.
Acta Ophthalmol. 2021.
PMID: 32533651
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