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ABCA4 Deep Intronic Variants Contributed to Nearly Half of Unsolved Stargardt Cases With a Milder Phenotype.
Invest Ophthalmol Vis Sci
January 2025
State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-Sen University, Guangdong Provincial Key Laboratory of Ophthalmology and Visual Science, Guangzhou, China.
Purpose: The purpose of this study was to investigate the contribution and natural progression of ABCA4 deep intronic variants (DIVs) among a Chinese Stargardt disease (STGD) cohort.
Methods: For unsolved STGD probands, DIVs in ABCA4 were detected by next-generation sequencing, and splicing effects were evaluated by in silico tools and validated through minigene experiments. Comprehensive ocular examinations, especially fundus changes, were carried out and analyzed.
Salivary steroids in acute central serous chorioretinopathy.
Int Ophthalmol
January 2025
University of Pittsburgh, UPMC Eye Center, 203 Lothrop Street, Pittsburgh, PA, 15213, USA.
Purpose: To analyze levels of salivary steroids, including 17-OH-progesterone (17-OHP), androstenedione, dehydroepiandrosterone, cortisol, cortisone, progesterone, testosterone, and estradiol, in patients with acute central serous chorioretinopathy (CSCR) patients.
Methods: Acute CSCR patients and healthy individuals were included in this observational case-control study. Levels of salivary steroids were determined by high-performance liquid chromatography with tandem mass spectrometry detection.
Unusual Coats-like response in occlusive retinal periphlebitis.
BMJ Case Rep
January 2025
Ophthalmology, Jawaharlal Institute of Postgraduate Medical Education and Research (JIPMER), Puducherry, India.
Coats-like response refers to a condition where abnormal telangiectatic retinal vessels and aneurysms associated with subretinal exudation are seen in the setting of other ocular or systemic diseases. So far, it has been described with various ocular disorders like retinitis pigmentosa, chronic ischemic branch retinal vein obstruction and pars planitis. A man in his 30s presented with a 1-month history of diminution of vision in the left eye.
View Article and Find Full Text PDFRetinal Vasculitis as a Rare Presentation of Microscopic Polyangiitis.
Cureus
December 2024
Internal Medicine, Unidade Local de Saúde de Coimbra, Coimbra, PRT.
Microscopic polyangiitis (MPA) is a rare, autoimmune, small-vessel vasculitis usually described with the presence of perinuclear antineutrophil cytoplasmic antibodies (p-ANCA). It encompasses a broad spectrum of clinical features, including fatigue, weight loss, fever, arthralgia, skin lesions, and involvement of the lungs or kidneys. Ocular manifestations, however, are extremely rare.
View Article and Find Full Text PDFEales' Disease in Inuit: A Short Report and Clinical Update.
Int Med Case Rep J
January 2025
Department of Ophthalmology, Rigshospitalet-Glostrup, Glostrup, Denmark.
Purpose: We report a case of Eales disease in Inuit and reflect on advances in telemedicine and treatment of retinal disease since the first report of Eales' disease in Greenlandic Inuit was published.
Patients And Methods: A 41-year-old Inuit female complaining of blurred vision was referred to our eye department. There had been no sign of diabetic retinopathy during diabetic eye screening and the patient had been treated for tuberculosis in 2010.
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