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2014 ; 53
(ä): 44-52
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Juvenile-onset macular degeneration and allied disorders
#MMPMID24732760
North V
; Gelman R
; Tsang SH
Dev Ophthalmol
2014[]; 53
(ä): 44-52
PMID24732760
show ga
While age-related macular degeneration (AMD) is a leading cause of central vision
loss among the elderly, many inherited diseases that present earlier in life
share features of AMD. These diseases of juvenile-onset macular degeneration
include Stargardt disease, Best disease, retinitis pigmentosa, X-linked
retinoschisis, and other allied disorders. In particular, they can be accompanied
by the appearance of drusen, geographic atrophy, macular hyperpigmentation,
choroidal neovascularization, and disciform scarring just as in AMD, and often
may be confused for the adult form of the disease. Diagnosis based on funduscopic
findings alone can be challenging. However, the use of diagnostic studies such as
electroretinography, electrooculography, optical coherence tomography, and fundus
autofluorescence in conjunction with genetic testing can lead to an accurate
diagnosis.