Ophthalmic manifestations of Danon disease.

Abstract:

PURPOSE:To describe the ophthalmic findings in patients with Danon disease, an X-linked condition causing cardiomyopathy in males and females. DESIGN:Retrospective case series. PARTICIPANTS: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. CONCLUSION: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.

journal_name

Ophthalmology

journal_title

Ophthalmology

authors

Prall FR,Drack A,Taylor M,Ku L,Olson JL,Gregory D,Mestroni L,Mandava N

doi

10.1016/j.ophtha.2006.02.030

subject

Has Abstract

pub_date

2006-06-01 00:00:00

pages

1010-3

issue

6

eissn

0161-6420

issn

1549-4713

pii

S0161-6420(06)00291-0

journal_volume

113

pub_type

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