منابع مشابه
Multimodal imaging in dominant cystoid macular dystrophy
Manuscript received: 29.04.17; Revision accepted: 30.05.17 Dominant cystoid macular dystrophy (DCMD) is a rare inherited retinal disorder. It primarily affects the macula. It is a unique retinal dystrophy because the appearance of cystic spaces in the macula heralds its onset with the rest of the retina being essentially normal.[1] Herein, we describe multimodal imaging findings in a case of DCMD.
متن کاملA Korean Family with an Early-Onset Autosomal Dominant Macular Dystrophy Resembling North Carolina Macular Dystrophy
PURPOSE To characterize and report the phenotype of a Korean family with an early-onset autosomal dominant macular dystrophy resembling North Carolina macular dystrophy (NCMD). METHODS Five members of a Korean family were examined clinically and underwent fundus photography, fluorescein angiography, indocyanine green angiography, optical coherence tomography, full field electroretinogram (ERG...
متن کاملFundus 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...
متن کاملDeciphering mutant ELOVL4 activity in autosomal-dominant Stargardt macular dystrophy.
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...
متن کاملAn early-onset autosomal dominant macular dystrophy (MCDR3) resembling North Carolina macular dystrophy maps to chromosome 5.
PURPOSE To characterize the phenotype of an autosomal dominant macular dystrophy and identify the chromosomal locus. METHODS Thirteen members of a four-generation, nonconsanguineous British family were examined clinically and also underwent automated perimetry, fundus fluorescein angiography, and fundus autofluorescence imaging. After informed consent was obtained, blood samples were taken fo...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: British Journal of Ophthalmology
سال: 1955
ISSN: 0007-1161
DOI: 10.1136/bjo.39.7.385