Late-Onset Retinal Degeneration Caused byC1QTNF5Mutation
نویسندگان
چکیده
منابع مشابه
Longitudinal Structural Changes in Late-onset Retinal Degeneration.
PURPOSE To characterize longitudinal structural changes in early stages of late-onset retinal degeneration to investigate pathogenic mechanisms. METHODS Two affected siblings, both with a S163R missense mutation in the causative gene C1QTNF5, were followed for 8+ years. Color fundus photos, fundus autofluorescence images, near-infrared reflectance fundus images, and spectral domain optical co...
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Late-onset retinal macular degeneration (L-ORD) is an autosomal dominant inherited disorder caused by a single missense mutation (S163R) in the CTRP5/C1QTNF5 protein. Early phenotypic features of L-ORD include: dark adaptation abnormalities, nyctalopia, and drusen deposits in the peripheral macular region. Apart from posterior segment abnormalities, these patients also develop abnormally long a...
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ژورنال
عنوان ژورنال: JAMA Ophthalmology
سال: 2014
ISSN: 2168-6165
DOI: 10.1001/jamaophthalmol.2014.2059