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.

• Authors: Jee Myung Yang, Beom Hee Lee, Gi-Byoung Nam, June-Gone Kim, Joo Yong Lee
• Journal: Genes (Genes (Basel)) Vol. 11 Issue 11 (11 16 2020) ISSN: 2073-4425 [Electronic] Switzerland
• PMID: 33207664 (Publication Type: Case Reports, Research Support, Non-U.S. Gov't)

Chemical References

• Codon, Nonsense
• LAMP2 protein, human
• Lysosomal-Associated Membrane Protein 2

Topics

• Codon, Nonsense
• Female
• Follow-Up Studies
• Glycogen Storage Disease Type IIb (complications, genetics)
• Humans
• Lysosomal-Associated Membrane Protein 2 (genetics)
• Middle Aged
• Retinitis Pigmentosa (diagnostic imaging, etiology)
• Young Adult