Ophthalmic manifestations of Danon disease

F Ryan Prall; Arlene Drack; Matthew Taylor; Lisa Ku; Jeffrey L Olson; Darren Gregory; Luisa Mestroni; Naresh Mandava

doi:10.1016/j.ophtha.2006.02.030

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Ophthalmic manifestations of Danon disease

Journal article

Peer reviewed

Ophthalmic manifestations of Danon disease

F Ryan Prall, Arlene Drack, Matthew Taylor, Lisa Ku, Jeffrey L Olson, Darren Gregory, Luisa Mestroni and Naresh Mandava

Ophthalmology (Rochester, Minn.), Vol.113(6), pp.1010-1013

06/2006

DOI: 10.1016/j.ophtha.2006.02.030

PMID: 16751040

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Abstract

To describe the ophthalmic findings in patients with Danon disease, an X-linked condition causing cardiomyopathy in males and females. Retrospective case series. Patients with genetically proven Danon disease. Retrospective chart review of complete eye examinations including electroretinogram, visual fields, and fluorescein angiography. Five females (4 affected) and 2 affected males were examined. The 4 affected females demonstrated a peripheral pigmentary retinopathy. Lens changes, myopia, abnormal electroretinogram and visual fields were also found. The males demonstrated a near-complete loss of pigment in the retinal pigment epithelium. We report the first description of a characteristic retinopathy in patients with Danon disease and the first extracardiac manifestations in affected females. Retinopathy potentially could be used to identify asymptomatic carriers.

Electroretinography

Glycogen Storage Disease Type IIb - genetics

Frameshift Mutation

Cataract - diagnosis

Cataract - etiology

Humans

Retinitis Pigmentosa - genetics

Glycogen Storage Disease Type IIb - complications

Male

Myopia - etiology

Retinitis Pigmentosa - diagnosis

Myopia - genetics

Visual Fields

Myopia - diagnosis

Lysosome-Associated Membrane Glycoproteins - genetics

Pigment Epithelium of Eye - pathology

Cataract - genetics

Female

Glycogen Storage Disease Type IIb - diagnosis

Retrospective Studies

Retinitis Pigmentosa - etiology

Lysosomal-Associated Membrane Protein 2

Fluorescein Angiography

Details

Title: Subtitle: Ophthalmic manifestations of Danon disease
Creators: F Ryan Prall - Department of Ophthalmology, University of Colorado, Aurora, Colorado, USA
Arlene Drack
Matthew Taylor
Lisa Ku
Jeffrey L Olson
Darren Gregory
Luisa Mestroni
Naresh Mandava
Resource Type: Journal article
Publication Details: Ophthalmology (Rochester, Minn.), Vol.113(6), pp.1010-1013
Publisher: United States
DOI: 10.1016/j.ophtha.2006.02.030
PMID: 16751040
ISSN: 0161-6420
eISSN: 1549-4713
Language: English
Date published: 06/2006
Academic Unit: Stead Family Department of Pediatrics; Ophthalmology and Visual Sciences
Record Identifier: 9983980029102771

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