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An Atypical Finding of Peripheral Retinal Ischemia and Neovascularization in Neurofibromatosis Type 1: A Case Report.
Cureus
December 2024
Radiology Department, King Khaled Eye Specialist Hospital, Riyadh, SAU.
Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic multisystem phakomatosis that can affect the skin, bones, and nervous system. NF1 typically presents with skin lesions, including freckles, café-au-lait macules, plexiform neurofibromas, and bony dysplasia, and is usually accompanied by a family history of the disorder. Ocular manifestations vary, but iris Lisch nodules and optic nerve gliomas are the most common features.
View Article and Find Full Text PDFSyndromic Retinitis Pigmentosa.
Prog Retin Eye Res
December 2024
Department of Ophthalmology, Leiden University Medical Center, Leiden, the Netherlands; Department of Ophthalmology, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, the Netherlands.
Retinitis pigmentosa (RP) is a progressive inherited retinal dystrophy, characterized by the degeneration of photoreceptors, presenting as a rod-cone dystrophy. Approximately 20-30% of patients with RP also exhibit extra-ocular manifestations in the context of a syndrome. This manuscript discusses the broad spectrum of syndromes associated with RP, pathogenic mechanisms, clinical manifestations, differential diagnoses, clinical management approaches, and future perspectives.
View Article and Find Full Text PDFEstablishment of a CPAMD8-GFP reporter human embryonic stem cell line, IBBDe001-B, using CRISPR/Cas9 editing.
Stem Cell Res
December 2024
National Engineering Research Center of Ophthalmology and Optometry, Eye Hospital, Wenzhou Medical University, Wenzhou, China; Oujiang Laboratory, Zhejiang Lab for Regenerative Medicine, Vision and Brain Health, Wenzhou, China. Electronic address:
The human CPAMD8 gene encodes proteins in the A2M/C3 (alpha-2-macroglobulin/complement 3) family, predominantly expressed in the distal tips of the retinal neuroepithelium that form the iris and ciliary body. Mutations in CPAMD8 have been linked to anterior segment dysplasia and congenital glaucoma. Using CRISPR/Cas9 editing, we inserted a 3*EAAAK-EGFP fluorescent tag into the CPAMD8 gene, enabling real-time observation of its expression and providing insights into its biological functions.
View Article and Find Full Text PDFBilateral Macular Dysplasia in Coffin-Siris Syndrome.
Retin Cases Brief Rep
November 2024
Associated Retinal Consultants. Royal Oak, Michigan, USA.
Article Synopsis
- The case report details a 7-year-old boy with Coffin-Siris syndrome (CSS) who exhibits bilateral macular dysplasia without accompanying pigmentary retinopathy.
- His medical history includes various developmental and anatomical issues, and genetic testing confirmed a variant linked to CSS and an uncertain variant in the CNGB1 gene.
- The boy's eye examinations over a decade showed stable vision and persistent macular dysplasia, suggesting that his ocular symptoms might broaden the understanding of CSS-related conditions.
Midperipheral Microvascular Defects and Their Associations With Vitreoretinal Abnormalities in Early-Stage Familial Exudative Vitreoretinopathy.
Invest Ophthalmol Vis Sci
November 2024
Eye and ENT Hospital, Shanghai Medical College, Fudan University, Shanghai, China.
Article Synopsis
- - The study aimed to analyze microvascular growth defects in the temporal midperipheral retina of patients with early-stage familial exudative vitreoretinopathy (FEVR) and how these relate to vitreoretinal microstructural abnormalities (VRMAs).
- - Researchers examined 127 FEVR patients and 31 healthy controls using widefield optical coherence tomography angiography, measuring parameters like vessel density and vessel diameter index to assess retinal blood vessel abnormalities.
- - Findings showed that a significant number of FEVR eyes had microvascular abnormalities, with lower vessel density and index compared to healthy eyes, indicating a correlation between these microvascular issues and the presence of VRMAs and preretinal vasculature.
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