Fundus Autofluorescence in Autosomal Dominant Occult Macular Dystrophy
نویسندگان
چکیده
منابع مشابه
Fundus autofluorescence in autosomal dominant occult macular dystrophy.
OBJECTIVE To characterize fundus autofluorescence (FAF) images of eyes with autosomal dominant occult macular dystrophy (OMD). METHODS All patients received a comprehensive ophthalmologic examination for diagnosis of OMD. We evaluated the FAF images in 13 eyes of 7 patients with autosomal dominant OMD by confocal scanning laser ophthalmoscopy with excitation at 488 nm and emission more than 5...
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Autosomal-dominant Stargardt-like macular dystrophy [Stargardt3 (STGD3)] results from single allelic mutations in the elongation of very-long-chain fatty acids-like 4 (ELOVL4), whereas recessive mutations lead to skin and brain dysfunction. ELOVL4 protein localizes to the endoplasmic reticulum, where it mediates the condensation reaction catalyzing the formation of very-long-chain (VLC) (C-28 t...
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ژورنال
عنوان ژورنال: Archives of Ophthalmology
سال: 2011
ISSN: 0003-9950
DOI: 10.1001/archophthalmol.2011.96