Cataract and optic disk drusen in a patient with glycogenosis and di George syndrome: clinical and molecular report
نویسندگان
چکیده
منابع مشابه
Cataract and optic disk drusen in a patient with glycogenosis and di George syndrome: clinical and molecular report
BACKGROUND We report the ophthalmic findings of a patient with type Ia glycogen storage disease (GSD Ia), DiGeorge syndrome (DGS), cataract and optic nerve head drusen (ONHD). CASE PRESENTATION A 26-year-old white woman, born at term by natural delivery presented with a post-natal diagnosis of GSD Ia. Genetic testing by array-comparative genomic hybridization (CGH) for DGS was required becaus...
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چکیده ندارد.
Optic disk drusen.
Optic disk drusen occur in 3.4 to 24 per 1,000 population and are bilateral in approximately 75%. Disturbance in the axonal metabolism in the presence of a small scleral canal--regardless of eyelength--is considered responsible for the development. The drusen increase in size, becoming more visible with age due to continuing calcium apposition, and they are associated with visual field defects ...
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ژورنال
عنوان ژورنال: BMC Ophthalmology
سال: 2017
ISSN: 1471-2415
DOI: 10.1186/s12886-017-0499-y