{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T17:48:23Z","timestamp":1791913703081,"version":"4.3.4"},"reference-count":26,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2020,6,13]],"date-time":"2020-06-13T00:00:00Z","timestamp":1592006400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100003243","name":"Ministerstvo Zdravotnictv\u00ed Cesk\u00e9 Republiky","doi-asserted-by":"publisher","award":["NU20\u201007\u201000182"],"award-info":[{"award-number":["NU20\u201007\u201000182"]}],"id":[{"id":"10.13039\/501100003243","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003243","name":"Ministerstvo Zdravotnictv\u00ed Cesk\u00e9 Republiky","doi-asserted-by":"publisher","award":["NV19\u201008\u201000122"],"award-info":[{"award-number":["NV19\u201008\u201000122"]}],"id":[{"id":"10.13039\/501100003243","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003243","name":"Ministerstvo Zdravotnictv\u00ed Cesk\u00e9 Republiky","doi-asserted-by":"publisher","award":["15\u201027682A"],"award-info":[{"award-number":["15\u201027682A"]}],"id":[{"id":"10.13039\/501100003243","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100007397","name":"Univerzita Karlova v Praze","doi-asserted-by":"publisher","award":["PROGRES Q26\/LF1"],"award-info":[{"award-number":["PROGRES Q26\/LF1"]}],"id":[{"id":"10.13039\/100007397","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100007397","name":"Univerzita Karlova v Praze","doi-asserted-by":"publisher","award":["SVV UK 260516"],"award-info":[{"award-number":["SVV UK 260516"]}],"id":[{"id":"10.13039\/100007397","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100007397","name":"Univerzita Karlova v Praze","doi-asserted-by":"publisher","award":["UNCE 204064"],"award-info":[{"award-number":["UNCE 204064"]}],"id":[{"id":"10.13039\/100007397","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Acta Ophthalmologica"],"published-print":{"date-parts":[[2021,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Purpose<\/jats:title><jats:p>Danon disease (DD) is a rare X\u2010linked disorder caused by pathogenic variants in <jats:italic>LAMP2<\/jats:italic>. DD primarily manifests as a severe cardiomyopathy. An early diagnosis is crucial for patient survival. The aim of the study was to determine the usefulness of ocular examination for identification of DD.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Detailed ocular examination in 10 patients with DD (3 males, 7 females) and a 45\u2010year\u2010old asymptomatic female somatic mosaic carrier of a <jats:italic>LAMP2<\/jats:italic> disease\u2010causing variant.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>All patients with manifest cardiomyopathy had pigmentary retinopathy with altered autofluorescence and diffuse visual field loss. Best corrected visual acuity (BCVA) was decreased (&lt;0.63) in 8 (40%) out of 20 eyes. The severity of retinal pathology increased with age, resulting in marked cone\u2010rod involvement overtime. Spectral\u2010domain optical coherence tomography in younger patients revealed focal loss of photoreceptors, disruption and deposition at the retinal pigment epithelium\/Bruch's membrane layer (corresponding to areas of marked increased autofluorescence), and hyperreflective foci in the outer nuclear layer. Cystoid macular oedema was seen in one eye. In the asymptomatic female with somatic mosaicism, the BCVA was 1.0 bilaterally. An abnormal autofluorescence pattern in the left eye was present; while full\u2010field electroretinography was normal.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Detailed ocular examination may represent a sensitive and quick screening tool for the identification of carriers of <jats:italic>LAMP2<\/jats:italic> pathogenic variants, even in somatic mosaicism. Hence, further investigation should be undertaken in all patients with pigmentary retinal dystrophy as it may be a sign of a life\u2010threatening disease.<\/jats:p><\/jats:sec>","DOI":"10.1111\/aos.14478","type":"journal-article","created":{"date-parts":[[2020,6,13]],"date-time":"2020-06-13T07:16:58Z","timestamp":1592032618000},"page":"61-68","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":20,"title":["Pigmentary retinopathy can indicate the presence of pathogenic <i>LAMP2<\/i> variants even in somatic mosaic carriers with no additional signs of Danon disease"],"prefix":"10.1111","volume":"99","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2824-2266","authenticated-orcid":false,"given":"Bohdan","family":"Kousal","sequence":"first","affiliation":[{"name":"Department of Ophthalmology First Faculty of Medicine Charles University and General University Hospital in Prague Prague Czech Republic"},{"name":"Research Unit for Rare 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