Original ArticleOphthalmic Manifestations of Danon Disease
Section snippets
Materials and Methods
Seven patients with Danon disease were examined in the authors’ university-based retina practice. Five females and a male from a single family were examined as well as another unrelated male. A retrospective review of the records was performed. Institutional review board exemption was obtained.
Results
We examined 5 females and a male from a family with Danon disease with a known LAMP-2 gene mutation. Four of the females and the male have a positive frame shift mutation in the LAMP-2 gene (frame shift at codon 361 and prematurely truncated protein: Genbank ID: NP_002285.1) that is predicted to disrupt the function of the protein. One healthy female with normal cardiac studies, who does not carry a mutation, was seen as a control. The unrelated male has not undergone genetic testing; his
Discussion
Danon disease is an X-linked systemic disease due to the lysosomal deficiency of LAMP-2 protein. To date, most of the published reports have focused on the cardiac or skeletal muscle phenotypes encountered and the disease is probably unfamiliar to most ophthalmologists. Our data are the first to demonstrate the presence of a peripheral retinopathy, lens changes, electroretinographic abnormalities, and visual field defects in both males and females with Danon disease.
Males with Danon disease
References (11)
- et al.
Two human lysosomal membrane glycoproteins, h-lamp-1 and h-lamp-2, are encodes by genes localized to chromosome13q34 and chromosome Xq24-25, respectively
J Biol Chem
(1990) - et al.
Danon’s disease (X-linked vacuolar cardiomyopathy and myopathy)a case with a novel LAMP-2 gene mutation
Neuromuscul Disord
(2002) - et al.
Clinical findings in a carrier of a new mutation in the choroideremia gene
Ophthalmology
(2004) - et al.
Lysosomal glycogen storage disease with normal acid maltase
Neurology
(1981) - et al.
Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease)
Nature
(2000)
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Manuscript No. 2005-481.