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Phosphoribosyl 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 PDFSusac is a rare systemic disease characterized by ischemic events involving the cochlea, brain, and retina. Delay in the diagnosis leads to sight-threatening complications such as neovascular glaucoma.
View Article and Find Full Text PDFEpstein-Barr Virus-Associated Frosted Branch Angiitis: A Case Report and Brief Review.
Retin Cases Brief Rep
December 2024
Department of Ophthalmology and Visual Neurosciences, University of Minnesota, Minneapolis, MN, USA.
Purpose: To report the clinical presentation, treatment course, and outcome of a case of bilateral frosted branch angiitis (FBA) and neuroretinitis associated with acute Epstein-Barr virus (EBV) infection in a pediatric patient with Turner Syndrome.
Methods: Case report with multimodal ocular imaging and extensive systemic workup.
Results: A 16-year-old female with Turner syndrome presented with acute bilateral vision loss, hearing loss, and ataxia.
Further evidence that a specific homozygous variant results in non-syndromic maculopathy and can be mistaken for prior ocular toxoplasmosis infection.
Ophthalmic Genet
January 2025
Eye Institute, Cleveland Clinic Abu Dhabi, Abu Dhabi, United Arab Emirates.
Introduction: Round atrophic macular scars with a hyperpigmented rim in an otherwise healthy child are characteristic for prior ocular toxoplasmosis infection, the most common etiology of self-resolved retinitis in immunocompetent patients. However, a specific homozygous gene mutation (NM_148960: : c. 263T>A; p.
View Article and Find Full Text PDFBelzutifan as the Primary Treatment of Bilateral Juxtapapillary Retinal Hemangioblastoma in a Patient With Von Hippel-Lindau Disease.
J Vitreoretin Dis
December 2024
Dartmouth Hitchcock Medical Center, Department of Surgery, Ophthalmology Section, Lebanon, NH, USA.
To describe the efficacy of belzutifan as a treatment for juxtapapillary retinal hemangioblastomas in patients with von Hippel-Lindau disease. A case and its findings were analyzed, and a systematic literature review was conducted using PubMed and Ovid MEDLINE. At a routine follow-up, a 63-year-old woman with a history of von Hippel-Lindau disease and slowly progressive bilateral juxtapapillary retinal hemangioblastomas presented with decreased visual acuity (VA) in the right eye resulting from significant lesion growth and an increase in central macular edema and exudate.
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