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Birdshot chorioretinopathy (BSCR) is a bilateral, chronic posterior uveitis with characteristic clinical and imaging findings. Multimodal imaging including optical coherence tomography, fluorescein, and indocyanine green angiography is useful in diagnosis, as well as monitoring disease activity. Cystoid macular edema, choroidal thickening and infiltration, ellipsoid loss, and vasculitis are important imaging markers for disease activity.
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Ophthalmology Unit, Head and Neck Department, Policlinico Umberto I University Hospital, 00161 Rome, Italy.
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View Article and Find Full Text PDFPhosphoribosyl pyrophosphate synthetase 1 () associated retinal degeneration: an international study.
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Department of Ophthalmology, Casey Eye Institute, Oregon Health & Science University, Portland, Oregon, USA.
Introduction: Phosphoribosyl pyrophosphate synthetase 1 () is an X-linked gene critical for nucleotide metabolism. Pathogenic variants cause three overlapping phenotypes: Arts syndrome (severe neurological disease), Charcot-Marie-Tooth type 5 [CMTX5] (peripheral neuropathy), and non-syndromic sensorineural hearing loss (SNHL). Each may be associated with retinal dystrophy.
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