Ophthalmic manifestations of Danon disease.
OBJECTIVE
To describe the ophthalmic findings in patients with Danon disease, an X-linked condition causing cardiomyopathy in males and females.


METHODS
Retrospective case series.


METHODS
Patients with genetically proven Danon disease.


METHODS
Retrospective chart review of complete eye examinations including electroretinogram, visual fields, and fluorescein angiography.


RESULTS
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.


CONCLUSIONS
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.
Prall
F Ryan
FR
Department of Ophthalmology, University of Colorado, Aurora, Colorado, USA.
Drack
Arlene
A
Taylor
Matthew
M
Ku
Lisa
L
Olson
Jeffrey L
JL
Gregory
Darren
D
Mestroni
Luisa
L
Mandava
Naresh
N
D002386:Cataract / Q000175:diagnosis / Q000209:etiology* / Q000235:genetics; D004596:Electroretinography; D005260:Female; D005451:Fluorescein Angiography; D016368:Frameshift Mutation; D052120:Glycogen Storage Disease Type IIb / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D052119:Lysosomal-Associated Membrane Protein 2; D051907:Lysosomal Membrane Proteins / Q000235:genetics; D008297:Male; D009216:Myopia / Q000175:diagnosis / Q000209:etiology* / Q000235:genetics; D010857:Pigment Epithelium of Eye / Q000473:pathology; D012174:Retinitis Pigmentosa / Q000175:diagnosis / Q000209:etiology* / Q000235:genetics; D012189:Retrospective Studies; D014794:Visual Fields
C497811:LAMP2 protein, human; D052119:Lysosomal-Associated Membrane Protein 2; D051907:Lysosomal Membrane Proteins