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- Title
Long-Term Follow-Up of Peripheral Pigmentary Retinopathy in Asian Patients with Danon Disease.
- Authors
Yang, Jee Myung; Lee, Beom Hee; Nam, Gi-Byoung; Kim, June-Gone; Lee, Joo Yong
- 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.
- Subjects
ASIANS; NONSENSE mutation; GENETIC mutation; MOTHERS; LONGITUDINAL method
- Publication
Genes, 2020, Vol 11, Issue 11, p1356
- ISSN
2073-4425
- Publication type
Article
- DOI
10.3390/genes11111356