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Low Vision Rehabilitation Referral Characteristics for Patients with Neovascular Age-Related Macular Degeneration.
Healthcare (Basel)
January 2025
Division of Ophthalmology, Department of Surgery, UMass Chan-Lahey School of Medicine, Burlington, MA 01805, USA.
: Despite evidence that low vision rehabilitation (LVR) services can improve visual function in patients with neovascular age-related macular degeneration (nAMD), many patients are not directed to access these resources. This study was conducted to determine factors associated with LVR referral and to assess the visual outcomes from completed evaluations. : The study comprised a retrospective, cross-sectional analysis of patients with nAMD.
View Article and Find Full Text PDFNR2E3-Associated Retinopathy Presenting with Bilateral Choroidal Neovascularization.
Retin Cases Brief Rep
October 2024
Singapore National Eye Centre, Singapore.
Purpose: We describe an atypical presentation of an 11-year-old female with enhanced S-cone syndrome (ESCS).
Methods: Case report. The patient underwent a thorough ophthalmic examination and investigations such as colour fundus photography, optical coherence tomography, fundus autofluorescence, fluorescein and indocyanine angiography, an electroretinogram and genetic testing.
Spectrum of Imaging Characteristics of Birdshot Chorioretinopathy.
Ocul Immunol Inflamm
January 2025
Department of Ophthalmology, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA.
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.
View Article and Find Full Text PDFPhosphoribosyl pyrophosphate synthetase 1 () associated retinal degeneration: an international study.
Ophthalmic Genet
January 2025
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.
View Article and Find Full Text PDFAntithrombin III deficiency and idiopathic intracranial hypertension: a case report.
J Med Case Rep
January 2025
Headache Department, Iranian Center of Neurological Research, Neuroscience Institute, Tehran University of Medical Sciences, Tehran, Iran.
Background: Idiopathic intracranial hypertension (IIH) is a condition where the pressure of the cerebrospinal fluid in the brain increases without a known cause. It typically affects adults but can also occur in adolescents and children, although it is less common. Numerous elements, including coagulopathy, have been documented in previous cases as potential etiological factors of IIH.
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