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


ABSTRACT: 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 LAMP2 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.

SUBMITTER: Yang JM 

PROVIDER: S-EPMC7697939 | biostudies-literature | 2020 Nov

REPOSITORIES: biostudies-literature

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

Yang Jee Myung JM   Lee Beom Hee BH   Nam Gi-Byoung GB   Kim June-Gone JG   Lee Joo Yong JY  

Genes 20201116 11


<h4>Background</h4>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.<h4>Methods and results</h4>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 showe  ...[more]

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