X-linked juvenile retinoschisis is a hereditary disorder which usually occurs in boys rather than in girls, who are rarely affected. First clinical manifestations usually appear during the first decade. It is responsible for variable severity and slowly progressive vision loss. This progression can be characterized by vitreous hemorrhages and recurrent retinal detachments. We report the case of a 17-year old patient with stellar bilateral microcistic macular rearrangement of the eye-ground, centered on the foveola, associated with peripheral schisis with retinal detachment and unilateral tearing of internal and external layers.
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http://dx.doi.org/10.11604/pamj.2017.28.38.12093 | DOI Listing |
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 PDFJ 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.
View Article and Find Full Text PDFRetin 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.
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 PDFJ 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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