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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.
A Case of a Short Stature Patient With Marfan Syndrome: A Tale of Wide Mediastinum.
Cureus
December 2024
Internal Medicine, Icahn School of Medicine at Mount Sinai, Queens Hospital Center, New York, USA.
Marfan syndrome (MFS), an inherited connective tissue disorder, is caused by a mutation in the FBN1 gene. MFS is characterized by complex manifestations involving musculoskeletal, cardiovascular, and ocular systems. The usual presentation for suspecting diagnosis in an individual with aortic root disease is tall stature in addition to other features that fulfill Ghent criteria.
View Article and Find Full Text PDFSMILE for correction of myopia in patients during the incipient phase of presbyopia.
Int Ophthalmol
January 2025
Department of Ophthalmology, Peking University Third Hospital, No 49 Huayuan North Road, Haidian District, Beijing, 100191, China.
Purpose: To evaluate clinical outcomes and visual quality 12 months after small incision lenticule extraction (SMILE) for correction of myopia with or without astigmatism in patients during the incipient phase of presbyopia.
Setting: Peking University Third Hospital, Beijing, China.
Design: Retrospective observation study.
Neuropathic corneal pain following refractive surgery: risk factors, clinical manifestations, imaging and proteomic characteristics.
Br J Ophthalmol
January 2025
Tissue Engineering and Cell Therapy Group, Singapore Eye Research Institute, Singapore
Background/aims: To identify the risk factors for neuropathic corneal pain (NCP) following corneal refractive surgery and to report its clinical manifestations, imaging and proteomic characteristics.
Methods: This 1 year prospective cohort study included 100 eyes that underwent small incision lenticule extraction (SMILE) or laser-assisted in situ keratomileusis (LASIK). Ocular surface assessments, in-vivo confocal microscopy scans, tear neuromediators and proteomics analyses were performed.
New insights into persistent corneal subepithelial infiltrates following epidemic keratoconjunctivitis: The first case report with ultrastructural and immunohistochemical investigations.
Acta Histochem
January 2025
Section of Anatomy and Histology, Imaging Platform, Department of Experimental and Clinical Medicine, University of Florence, Largo Brambilla 3, Florence 50134, Italy. Electronic address:
Epidemic keratoconjunctivitis (EKC) is one of the most severe clinical manifestations of human adenovirus ocular surface infection, which may lead to the formation of subepithelial infiltrates (SEIs) in the anterior corneal stroma in 20-50 % of cases. SEIs may be asymptomatic or give rise to corneal aberrations and visual impairment for months or years after acute infection, despite treatments. Here, we describe the ultrastructural and immunophenotypic features of the anterior corneal stroma of a patient who underwent superficial anterior lamellar keratoplasty (SALK) surgery to remove corneal opacities related to clinically significant and steroid-unresponsive, long-lasting SEIs after adenoviral EKC.
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