Long-Term Follow-Up of Peripheral Pigmentary Retinopathy in Asian Patients with Danon Disease

Background: Peripheral pigmentary changes are common amongst women with Danon disease; however, there is currently a lack of longitudinal observational studies of the retinal changes in this condition, and the long-term visual prognosis is not well understood. Methods and Results: In this report, we...

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Main Authors:	Jee Myung Yang, Beom Hee Lee, Gi-Byoung Nam, June-Gone Kim, Joo Yong Lee
Format:	Article
Language:	English
Published:	MDPI AG 2020-11-01
Series:	Genes
Subjects:	Danon disease Asian pigmentary retinopathy peripheral retinopathy inherited retinal disorder
Online Access:	https://www.mdpi.com/2073-4425/11/11/1356

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record_format	Article
spelling	doaj-203ccebfab924929a56beff72d8417232020-11-25T04:09:56ZengMDPI AGGenes2073-44252020-11-01111356135610.3390/genes11111356Long-Term Follow-Up of Peripheral Pigmentary Retinopathy in Asian Patients with Danon DiseaseJee Myung Yang0Beom Hee Lee1Gi-Byoung Nam2June-Gone Kim3Joo Yong Lee4Department of Ophthalmology, Asan Medical Center, University of Ulsan College of Medicine, 88, Olympic-Ro 43 Gil, Songpa-gu, Seoul 05505, KoreaMedical Genetics Center, Asan Medical Center Children’s Hospital, University of Ulsan College of Medicine, 88, Olympic-Ro 43 Gil, Songpa-gu, Seoul 05505, KoreaDepartment of Cardiology, Asan Medical Center, University of Ulsan College of Medicine, 88, Olympic-Ro 43 Gil, Songpa-gu, Seoul 05505, KoreaDepartment of Ophthalmology, Asan Medical Center, University of Ulsan College of Medicine, 88, Olympic-Ro 43 Gil, Songpa-gu, Seoul 05505, KoreaDepartment of Ophthalmology, Asan Medical Center, University of Ulsan College of Medicine, 88, Olympic-Ro 43 Gil, Songpa-gu, Seoul 05505, KoreaBackground: Peripheral pigmentary changes are common amongst women with Danon disease; however, there is currently a lack of longitudinal observational studies of the retinal changes in this condition, and the long-term visual prognosis is not well understood. Methods and Results: In this report, we present long-term follow-up data (12 years of follow-up) regarding peripheral retinopathy in an Asian woman and her mother who were both diagnosed with Danon disease. Both patients showed a novel nonsense mutation of the <i>LAMP2</i> gene (c.123 of exon 2). During the follow-up period, no evident extension of peripheral pigmented lesions or visual field progression was observed. Conclusions: We report, for the first time, the long-term longitudinal follow-up of Danon disease-related retinopathy in an Asian patient featuring an indolent macular-sparing peripheral lesion.https://www.mdpi.com/2073-4425/11/11/1356Danon diseaseAsianpigmentary retinopathyperipheral retinopathyinherited retinal disorder
collection	DOAJ
language	English
format	Article
sources	DOAJ
author	Jee Myung Yang Beom Hee Lee Gi-Byoung Nam June-Gone Kim Joo Yong Lee
spellingShingle	Jee Myung Yang Beom Hee Lee Gi-Byoung Nam June-Gone Kim Joo Yong Lee Long-Term Follow-Up of Peripheral Pigmentary Retinopathy in Asian Patients with Danon Disease Genes Danon disease Asian pigmentary retinopathy peripheral retinopathy inherited retinal disorder
author_facet	Jee Myung Yang Beom Hee Lee Gi-Byoung Nam June-Gone Kim Joo Yong Lee
author_sort	Jee Myung Yang
title	Long-Term Follow-Up of Peripheral Pigmentary Retinopathy in Asian Patients with Danon Disease
title_short	Long-Term Follow-Up of Peripheral Pigmentary Retinopathy in Asian Patients with Danon Disease
title_full	Long-Term Follow-Up of Peripheral Pigmentary Retinopathy in Asian Patients with Danon Disease
title_fullStr	Long-Term Follow-Up of Peripheral Pigmentary Retinopathy in Asian Patients with Danon Disease
title_full_unstemmed	Long-Term Follow-Up of Peripheral Pigmentary Retinopathy in Asian Patients with Danon Disease
title_sort	long-term follow-up of peripheral pigmentary retinopathy in asian patients with danon disease
publisher	MDPI AG
series	Genes
issn	2073-4425
publishDate	2020-11-01
description	Background: Peripheral pigmentary changes are common amongst women with Danon disease; however, there is currently a lack of longitudinal observational studies of the retinal changes in this condition, and the long-term visual prognosis is not well understood. Methods and Results: In this report, we present long-term follow-up data (12 years of follow-up) regarding peripheral retinopathy in an Asian woman and her mother who were both diagnosed with Danon disease. Both patients showed a novel nonsense mutation of the <i>LAMP2</i> gene (c.123 of exon 2). During the follow-up period, no evident extension of peripheral pigmented lesions or visual field progression was observed. Conclusions: We report, for the first time, the long-term longitudinal follow-up of Danon disease-related retinopathy in an Asian patient featuring an indolent macular-sparing peripheral lesion.
topic	Danon disease Asian pigmentary retinopathy peripheral retinopathy inherited retinal disorder
url	https://www.mdpi.com/2073-4425/11/11/1356
work_keys_str_mv	AT jeemyungyang longtermfollowupofperipheralpigmentaryretinopathyinasianpatientswithdanondisease AT beomheelee longtermfollowupofperipheralpigmentaryretinopathyinasianpatientswithdanondisease AT gibyoungnam longtermfollowupofperipheralpigmentaryretinopathyinasianpatientswithdanondisease AT junegonekim longtermfollowupofperipheralpigmentaryretinopathyinasianpatientswithdanondisease AT jooyonglee longtermfollowupofperipheralpigmentaryretinopathyinasianpatientswithdanondisease
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Long-Term Follow-Up of Peripheral Pigmentary Retinopathy in Asian Patients with Danon Disease

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