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Pathological findings in enucleated eyes of patients with neurofibromatosis type 1: report of a case with 15-year follow-up and review of 14 patients in the literature.
BMC Ophthalmol
August 2024
Department of Neurological Surgery, General Medical Center, Kawasaki Medical School, Okayama City, 700-8505, Japan.
Article Synopsis
- Iris nodules are common in neurofibromatosis type 1, but other eye issues are rare; this study highlights a patient with a phthisic eye who had it removed for cosmetic reasons after 15 years.
- The case focuses on a 17-year-old male who underwent multiple surgeries due to complications, including total retinal detachment, with the enucleated eye showing signs of massive retinal gliosis and no apparent neurofibromas in some areas.
- A review of 14 similar cases revealed a pattern of eye conditions like glaucoma and neurofibromas in certain structures, indicating various ocular manifestations of neurofibromatosis type 1.
The Increased Burden of Rare Variants in Four Matrix Metalloproteinase-Related Genes in Childhood Glaucoma Suggests a Complex Genetic Inheritance of the Disease.
Int J Mol Sci
May 2024
Área de Genética, Facultad de Medicina de Albacete, Universidad de Castilla-La Mancha, 02006 Albacete, Spain.
Childhood glaucoma encompasses congenital and juvenile primary glaucoma, which are heterogeneous, uncommon, and irreversible optic neuropathies leading to visual impairment with a poorly understood genetic basis. Our goal was to identify gene variants associated with these glaucoma types by assessing the mutational burden in 76 matrix metalloproteinase-related genes. We studied 101 childhood glaucoma patients with no identified monogenic alterations using next-generation sequencing.
View Article and Find Full Text PDFDistribution of variants in patients with early onset glaucoma.
Mol Vis
April 2024
Department of Biophysics, All India Institute of Medical Sciences, New Delhi.
Article Synopsis
- - The study investigates a new genetic link between certain variants and congenital glaucoma within a family affected by GAPO syndrome, along with other unrelated cases of juvenile open-angle glaucoma (JOAG) and primary congenital glaucoma (PCG).
- - Researchers identified three girls with GAPO syndrome from a consanguineous family, two of whom had congenital glaucoma, and discovered a unique mutation in all affected siblings, indicating a potential common genetic factor.
- - Additional findings revealed rare variants shared among other patients with JOAG and PCG, suggesting the need for further research to understand how these genetic variations may contribute to the development of these glaucomas.
Surgical Outcomes of Early Versus Late Onset Glaucoma Associated With Sturge-Weber Syndrome.
J Glaucoma
July 2024
Department of Ophthalmology, Bascom Palmer Eye Institute, University of Miami School of Medicine, Miami, FL.
Prcis: Long-term intraocular pressure control can be difficult to achieve in eyes with Sturge-Weber syndrome glaucoma. The most commonly performed primary surgery was trabeculotomyin early onset disease and tube shunt implantation in late onset disease.
Purpose: To compare long-term surgical outcomes of glaucoma associated with Sturge-Weber syndrome (SWS) in eyes with early and late-onset disease.
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