Ectopia Lentis

02/01/1994 - "Ectopia lentis (EL), a dominantly inherited connective tissue disorder, has been genetically linked to the fibrillin gene on chromosome 15 (FBN1) in earlier studies. "
02/01/1994 - "A novel mutation of the fibrillin gene causing ectopia lentis."
09/01/1992 - "More recently, a similar association with the fibrillin gene has also been established in the dominantly inherited form of ectopia lentis. "
01/01/1995 - "We have found abnormal fibrillin microfibrils isolated from tissues and cell cultures from two cousins with Marfan syndrome whose major clinical abnormality is bilateral ectopia lentis, but who also have skeletal involvement but no cardiovascular defects. "
10/15/1994 - "Simple ectopia lentis (EL) was studied in a large family, by clinical examination and analysis of linkage to markers in the region of FBN1, the gene for fibrillin which causes Marfan syndrome on chromosome 15. "

09/01/2008 - "To study the intraoperative performance and postoperative outcomes of Cionni modified capsule tension ring (CTR) and intraocular lens (IOL) implantation in the capsular bag in pediatric eyes with ectopia lentis. "
05/01/2015 - "Scheimpflug Imaging of Bilateral Ectopia Lentis and the Wrinkled Anterior Lens Capsule in Marfan's Syndrome."
03/01/2000 - "Microfibril abnormalities of the lens capsule in patients with Marfan syndrome and ectopia lentis."
01/01/1998 - "To gain a better understanding of the pathogenesis of ectopia lentis and myopia in Marfan syndrome, studies were performed to determine the distribution and structure of fibrillin microfibrils in the lens capsule of normal subjects and of subjects with Marfan syndrome. "

12/01/2022 - "To identify the mutation spectrum and genotype-phenotype correlations of fibrillin-1 (FBN1) mutations in a Chinese cohort with congenital ectopia lentis (EL). "
12/01/2022 - "Fibrillin-1 gene mutations in a Chinese cohort with congenital ectopia lentis: spectrum and genotype-phenotype analysis."
01/01/2020 - "Fibrillin-1 (FBN1) mutations cause connective tissue dysgenesis the main ocular manifestation being ectopia lentis (EL), which may be syndromic or non-syndromic. "
01/01/2019 - "To summarize the phenotypes and identify the underlying genetic cause of the fibrillin-1 (FBN1) gene responsible for congenital ectopia lentis (EL) in two Chinese families in northern China. "
02/01/2015 - "Identification of a fibrillin-1 gene mutation in a monozygotic twin presenting with bilateral juvenile-onset ectopia lentis."

12/01/2020 - "Clinical features generally include devastating neurologic dysfunction, ectopia lentis, and increased urinary excretion of sulfite, thiosulfate, and S-sulfocysteine. "
11/10/1977 - "Study of a 4 1/2-year-old boy with the unusual combination of acute infantile hemiplegia, ectopia lentis and the absence of homocystinuria showed large amounts of abnormal sulfur-containing metabolites (sulfite, thiosulfate and S-sulfocysteine) in the urine. "
01/01/2018 - "Cases were reviewed for consanguinity, sex, age at onset, death, clinical findings (including spasticity, seizures, psychomotor retardation, feeding difficulties, ectopia lentis, microcephaly), laboratory findings [urinary sulfite, S-sulfocysteine (in plasma and urine), plasma cystine, total homocysteine, uric acid, and oxypurines in urine] and radiological findings (including cerebral/cerebellar atrophy, cystic white matter changes, ventriculomegaly). "

12/01/2020 - "Clinical features generally include devastating neurologic dysfunction, ectopia lentis, and increased urinary excretion of sulfite, thiosulfate, and S-sulfocysteine. "
11/10/1977 - "Study of a 4 1/2-year-old boy with the unusual combination of acute infantile hemiplegia, ectopia lentis and the absence of homocystinuria showed large amounts of abnormal sulfur-containing metabolites (sulfite, thiosulfate and S-sulfocysteine) in the urine. "
01/01/2018 - "Cases were reviewed for consanguinity, sex, age at onset, death, clinical findings (including spasticity, seizures, psychomotor retardation, feeding difficulties, ectopia lentis, microcephaly), laboratory findings [urinary sulfite, S-sulfocysteine (in plasma and urine), plasma cystine, total homocysteine, uric acid, and oxypurines in urine] and radiological findings (including cerebral/cerebellar atrophy, cystic white matter changes, ventriculomegaly). "

12/01/2020 - "Clinical features generally include devastating neurologic dysfunction, ectopia lentis, and increased urinary excretion of sulfite, thiosulfate, and S-sulfocysteine. "
11/10/1977 - "Study of a 4 1/2-year-old boy with the unusual combination of acute infantile hemiplegia, ectopia lentis and the absence of homocystinuria showed large amounts of abnormal sulfur-containing metabolites (sulfite, thiosulfate and S-sulfocysteine) in the urine. "

08/01/2009 - "The aim of this study was to analyze protein models of the mutation of the fibrillin-1 (FBN1) gene on Arg545Cys and Arg1530Cys which have been reported to cause predominant ectopia lentis in Chinese patients. "
05/01/2014 - "The truncating and missense mutations we identified are predicted to severely impair the enzymatic function of ASPH, which suggests a possible link to other forms of ectopia lentis given that many of the genes implicated in this phenotype encode proteins that harbor EGF domains. "

11/10/1977 - "Study of a 4 1/2-year-old boy with the unusual combination of acute infantile hemiplegia, ectopia lentis and the absence of homocystinuria showed large amounts of abnormal sulfur-containing metabolites (sulfite, thiosulfate and S-sulfocysteine) in the urine. "

10/28/2023 - "Variants that create an extra cysteine residue were found to be associated with a higher risk of ectopia lentis. "
01/01/2021 - "More MFS diagnoses were made in patients with cysteine substitutions (observed n = 16, expected n = 12.6), while ectopia lentis syndrome was detected more often in patients with cbEGF-like mutations out of the functional regions (observed n = 6, expected n = 2.5; p = 0.023). "
01/01/2021 - "Patients with DN variants carrying a cysteine substitution had a higher incidence of ectopia lentis."
09/01/2007 - "A higher probability of ectopia lentis was found for patients with a missense mutation substituting or producing a cysteine, when compared with other missense mutations. "
01/01/2004 - "Ectopia lentis was also found to be more prevalent in patients whose mutations involved a cysteine substitution (relative risk 1.6) and less prevalent in those with premature termination mutations (relative risk 0.4). "

02/01/2021 - "Here, we report a 19-year-old woman with Marfan's morphotype, high blood homocysteine, and a history of ectopia lentis. "
01/01/2017 - "Prolonged exposure to elevated serum homocysteine levels is most likely the explanation for her ectopia lentis. "
01/01/2000 - "These diseases are seen as clinical counterparts of the main manifestations of homocystinuria (vascular occlusions of arteries and veins, mental retardation, osteoporosis and ectopia lentis, respectively) that develop only after many years of exposure to moderately elevated homocysteine (Hcy) levels. "
03/28/2022 - "Symptoms of untreated classical HCU patients include intellectual disability (ID), ectopia lentis and long limbs, along with elevated plasma methionine, and homocysteine. "
03/01/1977 - "Interference with collagen cross-linking by sulfhydryl groups of homocysteine causes ectopia lentis and skeletal deformities. "

01/01/2021 - "This study aimed to report the visual acuity outcomes and complications of sutured scleral fixation of posterior chamber intraocular lens (IOL) in children under 9 years old with congenital ectopia lentis. "
01/01/2021 - "This study evaluated visual outcomes and complications at 3 years post-implantation of a Cionni-modified capsular tension ring (MCTR) with an intraocular lens (IOL) in ectopia lentis patients ≤8 years old. "
01/01/2020 - "This study was conducted to report the refractive and visual outcome after Scleral Fixated Intraocular Lens (SFIOL) implantation in children with nontraumatic ectopia lentis. "
10/01/2017 - "The purpose of the study was to review the safety and stability of scleral-fixated intraocular lens (IOL) 2 years after implantation in children with idiopathic ectopia lentis (EL). "
02/01/2023 - "A Modified Knotless Transscleral Intraocular Lens Fixation Technology for Congenital Ectopia Lentis."

01/01/1995 - "Our study suggests that performing lensectomy-vitrectomy with the Klöti vitreous stripper is the best surgical approach in ectopia lentis with Marfan's disease. "
07/01/2012 - "Surgical intervention for ectopia lentis via vitrectomy techniques yields good result. "
06/01/2012 - "23-G pars plana vitrectomy, lensectomy, and artisan IOL implantation for the management of nontraumatic ectopia lentis: a new iris enclavation technique for iris claw lens."
08/01/2005 - "Charts of 11 consecutive patients with bilateral ectopia lentis who underwent lensectomy-anterior vitrectomy in at least one eye from 1985 to 2004 were reviewed. "
04/01/1996 - "These results and the unique continuous and long-term follow-up on our patients demonstrate that lensectomy of ectopia lentis combined with anterior vitrectomy using a closed-system technique is a beneficial and relatively safe procedure."

01/01/2022 - "The purpose of this study was to quantify the characteristics of the tilt and decentration of the IOL after trans-scleral suture fixation surgery in congenital ectopia lentis (CEL) patients. "
03/31/2023 - "Transscleral suture fixation in congenital ectopia lentis."
02/01/2023 - "This study aimed to compare modified knotless transscleral suture fixation of intraocular lens (IOL) with traditional transscleral suture fixation for adolescents and young patients with congenital ectopia lentis (CEL). "
01/01/2002 - "A 5-year-old boy with severe ectopia lentis had bilateral lensectomy and suture fixation of a foldable acrylic intraocular lens (IOL) through a 3.0 mm clear corneal incision. "
01/01/2002 - "Suture fixation of a foldable acrylic intraocular lens for ectopia lentis."

07/01/2023 - "Supracapsular scleral sutured intraocular lens implantation in anterior segment dysgenesis patients with ectopia lentis."
01/01/2020 - "Refractive and Visual Outcomes after Scleral Fixated Intraocular Lens Implantation in Children with Ectopia Lentis."
03/01/2017 - "Iris-claw intraocular lens implantation in children with ectopia lentis."
03/01/2017 - "Anterior iris-claw intraocular lens implantation for the management of nontraumatic ectopia lentis: long-term outcomes in a paediatric cohort."
07/01/2023 - "To describe a new strategy to manage ectopia lentis in ASD patients assessing the visual outcomes and safety of supracapsular scleral sutured intraocular lens implantation and analyzing the accuracy of different intraocular lens (IOL) power calculation formulae. "

12/01/2002 - "Ectopia lentis (EL) is a clinical manifestation of MFS, with stretching or disruption of the lenticular zonular filaments, leading to displacement of the lenses. "
07/01/1975 - "The cogenital ectopia lentis was believed to be on a hereditary basis since the father of the patient had worn aphakic lenses all his life without surgery and as none of the many other causes of ectopia lentis could be found."
01/01/1977 - "A technique is presented for removal of subluxated or dislocated lenses (ectopia lentis), along with performance of vitrectomy. "
03/01/2012 - "Artisan iris-claw lenses for the correction of aphakia in children following lensectomy for ectopia lentis."
06/08/1998 - "He had a history of severe oligophrenia, bilateral ectopia lentis requiring extraction of both lenses and operatively corrected genu valgum on both sides. "