J Retin.
2024 Nov;9(2):191-198. 10.21561/jor.2024.9.2.191.
Two Cases of Peripheral Pigmentary Retinopathy in a Korean Family with Danon Disease : Case Report
- Affiliations
-
- 1Department of Ophthalmology, Pusan National University Yangsan Hospital, Yangsan, Korea
- 2Research Institute for Convergence of Biomedical Science and Technology, Pusan National University Yangsan Hospital, Yangsan, Korea
- 3Department of Ophthalmology, Pusan National University School of Medicine, Yangsan, Korea
- 4Division of Cardiology, Department of Internal Medicine, Pusan National University Yangsan Hospital, Yangsan, Korea
- 5Department of Internal Medicine, Pusan National University School of Medicine, Yangsan, Korea
- KMID: 2561883
- DOI: http://doi.org/10.21561/jor.2024.9.2.191
Abstract
- Purpose
To report two cases of peripheral pigmentary retinopathy observed in a family with Danon disease, a rare genetic disorder caused by a mutation in lysosomal associated membrane protein 2 (LAMP2).
Case Summary
A 48-year-old woman presented with photopsia. The patient had received a heart transplant for dilated cardiomyopathy and was found to have the c.928G>A mutation on LAMP2 gene testing due to a family history. The patient and her two daughters were found to have the same genetic mutation. Those who underwent ophthalmic examination, the patient and one daughter, exhibited diffuse salt and peppered pigmentation bilaterally. Optical coherence tomography revealed drusen and drusenoid retinal pigment epithelial detachment in both eyes of the patient, but no other significant findings. Fluorescein angiography showed mottled hyperfluorescence due to retinal pigment epithelial atrophy and pigment clumping, with no significant changes in the macula. One patient showed no progression of visual impairment in vision or expansion of pigment lesions over four years.
Conclusions
Patients with Danon disease may show atypical peripheral retinal pigmentary degeneration along with cardiomyopathy, and in this case, ophthalmic findings tended to be stable for the long term.
