کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
8964537 | 1646669 | 2018 | 6 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
SD-OCT imaging as a valuable tool to support molecular genetic diagnostics of Usher syndrome type 1
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موضوعات مرتبط
علوم پزشکی و سلامت
پزشکی و دندانپزشکی
چشم پزشکی
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چکیده انگلیسی
A girl with profound congenital deafness and balance problems was found at 3.5Â years of age to be a carrier of two novel compound heterozygous mutations in MYO7A that were predicted to be disease-causing. She also carried one known pathogenic mutation and one rare variant in USH2A. Fundus examination performed at 4.75Â years revealed one small peripheral pigment deposit in the right eye, indicating probable retinal degeneration. Spectral domain optical coherence tomography (SD-OCT) showed a loss of photoreceptors throughout the macular area, except for the foveolar region, clearly confirming a diagnosis of Usher syndrome type 1. This case demonstrates that SD-OCT may be easily used in young children to confirm retinal disease, quantify the extent of retinal damage, and monitor disease progression.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Journal of American Association for Pediatric Ophthalmology and Strabismus - Volume 22, Issue 4, August 2018, Pages 312-314.e3
Journal: Journal of American Association for Pediatric Ophthalmology and Strabismus - Volume 22, Issue 4, August 2018, Pages 312-314.e3
نویسندگان
Radka MD, PhD, Jana MSc, Jana MSc, Bohdan MD, Lubica PhD, Petra MD, PhD,