About 365 results

ALLMedicine™ Ectopia Lentis Center

Research & Reviews  143 results

ADAMTSL4-related ectopia lentis: A case of pseudodominance with an asymptomatic parent.
American Journal of Medical Genetics. Part A; Scanga HL, Nischal KK

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...

Intraocular lens implantation with flattened flanged intrascleral fixation technique in...
Journal of AAPOS : the Official Publication of the Americ... Ucar F

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...

Molecular characterization and investigation of the role of genetic variation in phenot...
Genetics in Medicine : Official Journal of the American C... Meester JAN, Peeters S et. al.

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...

Novel ADAMTSL4 gene mutations in Chinese patients with isolated ectopia lentis.
The British Journal of Ophthalmology; Guo D, Yang F et. al.

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...

Accuracy of intraocular lens power formulas for eyes with scleral-sutured intraocular l...
Journal of Cataract and Refractive Surgery; Lian Z, Cao Q et. al.

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...

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Clinicaltrials.gov  1 results

Classifying Ectopia Lentis in Marfan Syndrome Into Five Grades of Increasing Severity

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...

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News  2 results

Revised Criteria May Increase Accuracy of Marfan Diagnosis
Diana Mahoney

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.

Predictive Physical Manifestations for Progression of Scoliosis in Marfan Syndrome

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...

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