کد مقاله کد نشریه سال انتشار مقاله انگلیسی ترجمه فارسی نسخه تمام متن
4013346 1261821 2016 3 صفحه PDF ندارد دانلود رایگان
عنوان انگلیسی مقاله
Ocular findings associated with chromosome 22q11.2 duplication
ترجمه فارسی عنوان
یافته های چشمی با تقلید کروموزوم 22q11.2 در ارتباط است
موضوعات مرتبط
علوم پزشکی و سلامت پزشکی و دندانپزشکی چشم پزشکی
چکیده انگلیسی

We describe the ocular features of the chromosome 22q11.2 duplication syndrome and provide ophthalmologic examination recommendations for affected patients. The medical records of 19 children with chromosome 22q11.2 duplication who had undergone complete ophthalmological examination, including dilated fundus examination and cycloplegic refraction, were studied retrospectively. Over half of the children with 22q11.2 duplication syndrome were found to have visually significant ocular abnormalities, including 6 with strabismus, 2 with moderately high astigmatism requiring glasses, 1 with unilateral congenital cataract requiring surgery, 1 with optic disk drusen, 1 with bilateral megalocornea with normal eye pressures, 1 with nystagmus that resolved spontaneously, and 1 with delayed visual maturation. Because of the high incidence of conditions that could affect visual development, we recommend that children with 22q11.2 duplication syndrome have a complete ophthalmological examination on diagnosis and regular vision screenings by their primary care physician thereafter.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Journal of American Association for Pediatric Ophthalmology and Strabismus - Volume 20, Issue 3, June 2016, Pages 278–280
نویسندگان
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