Two Cases of Peripheral Pigmentary Retinopathy in a Korean Family with Danon Disease :Case Report
10.21561/jor.2024.9.2.191
- Author:
Seung Ahn YANG
1
;
Seung Min LEE
;
Soo Yong LEE
;
Su Hwan PARK
Author Information
1. Department of Ophthalmology, Pusan National University Yangsan Hospital, Yangsan, Korea
- Publication Type:CASE REPORT
- From:
Journal of Retina
2024;9(2):191-198
- CountryRepublic of Korea
- Language:English
-
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.
