Abstract
Purpose :
To describe the phenotype and genotype in a young woman with early onset of hypertrophic cardiomyopathy, depression and anxiety, peripheral pigmentary retinal dystrophy (PPRD), and a mutation in the LAMP2 gene.
Methods :
The patient with Danon disease underwent an ophthalmic examination including best corrected visual acuity (BCVA), slit-lamp biomicroscopy, funduscopy, fundus photography and fundus autofluorescence (FAF), full-field electroretinography (full-field ERG), multifocal ERG, optical coherence tomography (OCT) and SAP-Humphrey 30-2 at the ages of 20, and 25. Electrooculography, fluorescein angiography (FA), indocyanine angiography and OCT-angiography were performed only once. Genetic testing using a Next-Generation Sequencing panel and immunohistochemical analysis of LAMP2 protein expression in the explanted heart were performed, and the patient’s cardiologic and ophthalmologic records were retrospectively reviewed.
Results :
A de novo, novel, mosaic, missense mutation, c.135dupA (p.Trp46Metfs*10) was identified in exon 2 of the LAMP2 gene. Immunohistochemical investigation of the myocardium in the explanted heart revealed pronounced deficiency of LAMP2 protein in cardiomyocytes. The color photographs, FAF images and FA revealed more extended atrophy of the retinal pigment epithelium at the 5-year follow-up examination. No changes were observed in BCVA, OCT, SAP-Humphrey 30-2 or multifocal ERG findings at follow-up. Full-field ERG showed an asymmetric interocular reduction in ERG response at follow-up: the b-wave amplitude of the rod response had decreased by 29 % in the right eye, but by only 6 % in the left eye. The a-wave amplitude of single-flash response had decreased by 9 % in the left eye, while it had increased by 3 % in the right eye.
Conclusions :
Although PPRD progressed only slowly, it was also an important clue in the diagnosis of the life-threatening condition of Danon disease.
This abstract was presented at the 2019 ARVO Annual Meeting, held in Vancouver, Canada, April 28 - May 2, 2019.