Autosomal recessive bestrophinopathy associated with angle-closure glaucoma
نویسندگان
چکیده
منابع مشابه
Functional characterization of bestrophin-1 missense mutations associated with autosomal recessive bestrophinopathy.
PURPOSE Autosomal recessive bestrophinopathy (ARB) is a retinal dystrophy affecting macular and retinal pigmented epithelium function resulting from homozygous or compound heterozygous mutations in BEST1. In this study we characterize the functional implications of missense bestrophin-1 mutations that cause ARB by investigating their effect on bestrophin-1's chloride conductance, cellular local...
متن کاملA Novel BEST1 Mutation in Autosomal Recessive Bestrophinopathy.
PURPOSE To describe the clinical characteristics associated with a newly identified mutant of autosomal recessive bestrophinopathy (ARB) and confirm the associated physiological functional defects. METHODS Two patients with ARB from one family underwent a full ophthalmic examination, including dilated fundus examination, fundus photography, fluorescein angiography, fundus autofluorescence ima...
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rected vision was 20/50 OS. The left eye was correctable to 20/20 with +1.50−1.75 60. The patient was followed up every 2 weeks for 5 months until his vision and refraction stabilized in the left eye (without correction, visual acuity was 20/200 and with correction, −1.75−2.50 45, visual acuity was 20/20). Keratometry in the left eye at this time was 41.25 D at 136 degrees, 38.75 D at 46 degree...
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BACKGROUND Acute angle-closure glaucoma is a rare complication in patients receiving anti-depressant treatment. In the following case, we report the development of acute angle closure glaucoma in a patient who overdosed on Citalopram, an antidepressant, and discuss the possible etiological mechanisms for the condition. CASE PRESENTATION We report a 54 year old, Caucasian lady, with depression...
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ژورنال
عنوان ژورنال: Documenta Ophthalmologica
سال: 2014
ISSN: 0012-4486,1573-2622
DOI: 10.1007/s10633-014-9444-z