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Congenital microcoria deletion in mouse links Sox21 dysregulation to disease and suggests a role for TGFB2 in glaucoma and myopia.
Am J Hum Genet
October 2024
Laboratory of Genetics in Ophthalmology (LGO), INSERM UMR1163, Institute of Genetic Diseases, Imagine and Université Paris Cité, Paris, France. Electronic address:
Article Synopsis
- Congenital microcoria (MCOR) is a rare genetic condition linked to issues like severe nearsightedness and glaucoma, caused by changes in a specific chromosome region.
- Researchers developed a 3D model of chromosome 13q32.1, showing how deletions disrupt important genetic boundaries, leading to altered gene expression that affects iris development.
- The study also identified a connection between SOX21 and the TGFB2 gene, highlighting their roles in eye development and conditions like glaucoma and myopia, which impact a large population.
Rare micropupil secondary to congenital cataract surgery favoring the development of the affected eye: a case report.
BMC Ophthalmol
June 2024
Department of Ophthalmology, Beijing AnZhen Hospital, Capital Medical University, Beijing, 100029, China.
Background: Congenital microcoria has been extensively reported and usually leads to visual dysfunction or blindness. However, micropupil development secondary to cataract surgery has never been reported. Here, we describe a rare case of micropupil development in infancy that occurred secondary to combined cataract extraction and intraocular lens implantation for treatment of congenital cataract.
View Article and Find Full Text PDFCongenital Microcoria: Clinical Features and Molecular Genetics.
Genes (Basel)
April 2021
Laboratory of Genetics in Ophthalmology (LGO), INSERM UMR1163, Institute of Genetic Diseases, Imagine and Paris Descartes University, 75015 Paris, France.
Iris integrity is required to regulate both the amount of light reaching the retina and intraocular pressure (IOP), with elevated IOP being a major risk factor for glaucoma. Congenital microcoria (MCOR) is an extremely rare, autosomal dominant disease affecting iris development and hindering both of these functions. It is characterized by absent or underdeveloped dilator muscle fibers and immaturity of the iridocorneal angle-where the aqueous humor is drained-which play a central role in IOP regulation.
View Article and Find Full Text PDFCongenital Microcoria.
Ophthalmology
April 2021
University of Toronto Faculty of Medicine, Toronto, Ontario, Canada.
Pierson Syndrome Associated with Hypothyroidism and Septic Shock.
Sultan Qaboos Univ Med J
November 2020
Department of Pediatrics, Dow Medical College, Dow University of Health Sciences, Karachi, Pakistan.
Pierson syndrome is caused by mutations in the gene causing absent β2 laminin, which is a normal component of the basement membranes of the mature glomerulus, structures in the anterior eye and neuromuscular junctions. The mutations manifest as congenital nephrotic syndrome and microcoria which are characteristic ocular features of this disease. These mutations may also result in neurological abnormalities such as hypotonia and psychomotor retardation.
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