ALLMedicine™ Ectopia Lentis Center

Feb 27th, 2022 - Pathogenic variants of ADAMTSL4 are associated with autosomal recessive ectopia lentis et pupillae and isolated ectopia lentis, often presenting congenitally or in childhood. We describe a pedigree of a 4-year-old female child with bilateral ectop...

Jan 28th, 2022 - To evaluate the clinical outcomes of flattened flanged intrascleral fixation of the intraocular lens (IOL) in cases of pediatric aphakia without adequate capsular support. The medical records of children who underwent flattened flanged intrasclera...

Jan 22nd, 2022 - In a large cohort of 373 pediatric patients with Marfan syndrome (MFS) with a severe cardiovascular phenotype, we explored the proportion of patients with MFS with a pathogenic FBN1 variant and analyzed whether the type/location of FBN1 variants w...

Jan 20th, 2022 - To characterise the phenotype and genetic defects of isolated ectopia lentis (IEL) and to determine the ADAMTSL4 gene mutation frequencies in a Chinese congenital ectopia lentis (CEL) cohort. In total, 127 Chinese probands with a clinical CEL diag...

Jan 4th, 2022 - To compare the accuracy of intraocular lens (IOL) power calculation formulas in eyes with congenital ectopia lentis (CEL) that underwent scleral-fixated IOL implantation. Zhongshan Ophthalmic Center, Guangzhou, China. Retrospective consecutive cas...

Mar 27th, 2020 - Marfan syndrome is characterized by musculoskeletal manifestations, cardiovascular disease and ocular abnormalities, particularly ectopia lentis. Diagnosis depends on clinical evaluation, family history and molecular data: mutation in the fibrilli...

Aortic root aneurysm and ectopia lentis are the cardinal clinical features of Marfan syndrome, and the presence of both of them is sufficient for the “unequivocal diagnosis” of the genetic connective-tissue disorder, according to recently revised.

Abstract and Introduction Abstract Study Design: A retrospective study of the prospective cohort. Objective: To demonstrate the accurate distribution of the severity of scoliosis in patients with Marfan syndrome, and to identify the predictive phy...