Ectopia Lentis

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. "
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. "
12/15/2015 - "Mutations in human ADAMTSL4, encoding an ADAMTS-like protein which has been implicated in fibrillin microfibril biogenesis, cause ectopia lentis (EL) and EL et pupillae. "
02/01/2015 - "Identification of a fibrillin-1 gene mutation in a monozygotic twin presenting with bilateral juvenile-onset ectopia lentis."
12/01/2013 - "The presence of fibrillin 2 in the murine zonule and an intact zonule in Fbn1-knockout mice may limit the utility of rodent models for studying ectopia lentis in MFS."

01/01/1992 - "Ectopia lentis and aortic root dilatation in congenital contractural arachnodactyly."
04/02/1992 - "Ectopia lentis was also linked to the fibrillin gene on chromosome 15, whereas congenital contractural arachnodactyly was linked to the fibrillin gene on chromosome 5. There was no linkage of mitral-valve prolapse to the fibrillin gene on chromosome 5; studies of chromosome 15 were not informative. "
04/02/1992 - "Genetic linkage of the Marfan syndrome, ectopia lentis, and congenital contractural arachnodactyly to the fibrillin genes on chromosomes 15 and 5. The International Marfan Syndrome Collaborative Study."
04/02/1992 - "The Marfan syndrome has been linked to the fibrillin gene on chromosome 15, but congenital contractural arachnodactyly, which shares some of the physical features of the syndrome, has been linked to the fibrillin gene on chromosome 5. Using specific markers for the fibrillin genes, we performed genetic linkage analysis in 28 families with the Marfan syndrome and 8 families with four phenotypically related disorders--congenital contractural arachnodactyly (3 families), ectopia lentis (2), mitral-valve prolapse syndrome (2), and annuloaortic ectasia (1). "
11/01/2000 - "The following disorders will be discussed in this review: supravalvular aortic stenosis; Williams-Beuren syndrome; cutis laxa; Marfan syndrome; ectopia lentis; familial thoracic aortic aneurysms and dissections; MASS syndrome; isolated skeletal features of Marfan syndrome; Shprintzen-Goldberg syndrome; and congenital contractural arachnodactyly."

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. "

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. "

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). "
08/01/2014 - "We report on a patient with ectopia lentis and a nonprogressive aortic root dilatation who presented with a novel mutation affecting a conserved cysteine residue present in a calcium-binding epidermal growth factor-like domain of FBN1 (ENSP00000325527, p.Cys538Phe; Chr15:48,805,751 G>T), as revealed by complete sequencing of the FBN1 gene exons and flanking sequences. "
12/01/2005 - "Most strikingly, there was a significantly lower incidence of ectopia lentis in patients who carried a mutation that led to a premature termination codon (PTC) or a missense mutation without cysteine involvement in FBN1, as compared to patients whose mutations involved a cysteine substitution or splice site alteration."

01/01/2012 - "ADAMTSL4 mutations cause autosomal recessive isolated ectopia lentis (IEL) and ectopia lentis et pupillae. "
12/01/2010 - "The causative mutation, which is the first to be described in ectopia lentis et pupillae, disrupts the same gene function previously shown to cause isolated ectopia lentis. "
01/01/2015 - "The diagnoses were Marfan syndrome in six patients, familial ectopia lentis in six, and sporadic ectopia lentis in three. "
01/01/2007 - "This mutation has previously been reported in a family with isolated ectopia lentis, in another family with ectopia lentis and involvement of the skeleton and integument, and in one person with classic Marfan syndrome. "

07/01/2008 - "We found preferential associations between The Cys-missense mutations and ectopia lentis and premature termination codon mutations and skeletal manifestations. "
04/01/2009 - "When comparing patients with mutations leading to a premature termination codon (PTC) within exons 24-32 to patients with an in-frame mutation within the same region, a significantly higher probability of developing ectopia lentis and mitral insufficiency were found in the second group. "
12/01/2005 - "Most strikingly, there was a significantly lower incidence of ectopia lentis in patients who carried a mutation that led to a premature termination codon (PTC) or a missense mutation without cysteine involvement in FBN1, as compared to patients whose mutations involved a cysteine substitution or splice site alteration."

10/01/2002 - "Microscopic findings in the enucleated eye consisted of iris and retinal dysgenesis, ectopia lentis, persistent anterior tunica vasculosa lentis and pupillary membrane, intrachoroidal smooth muscle, and optic nerve hypoplasia. "
10/01/2003 - "Herein are current reviews of a variety of ophthalmologic genetic disorders such as anophthalmia, aniridia, albinism, anterior segment dysgenesis, Marfan syndrome, ectopia lentis, neurofibromatosis, retinal hemangioblastomas, and familial exudative vitreoretinopathy."
11/01/1977 - "Changes observed included microphthalmia, scleral ectasia, scleral rupture, keratoconus, retinal detachment, retinal dysplasia, retinal fragmentation, retinal thinning, fibrosis of iris and ciliary body, ectopia lentis, and cataract formation. "

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. "
08/01/2014 - "We report on a patient with ectopia lentis and a nonprogressive aortic root dilatation who presented with a novel mutation affecting a conserved cysteine residue present in a calcium-binding epidermal growth factor-like domain of FBN1 (ENSP00000325527, p.Cys538Phe; Chr15:48,805,751 G>T), as revealed by complete sequencing of the FBN1 gene exons and flanking sequences. "
05/15/1999 - "Introduction of a single ectopia lentis-causing amino acid substitution (E2447K; one-letter symbols for amino acids) in a calcium-binding epidermal growth factor-like domain, predicted to disrupt calcium binding, markedly altered the pattern of C-terminal fibrillin-1 degradation. "

09/01/2015 - "Ectopia lentis occurs in each of these conditions except geleophysic dysplasia, and is due to a defect in the ciliary zonule, which is predominantly composed of FBN1 microfibrils. "
12/01/2013 - "Weill-Marchesani syndrome, on the basis of microspherophakia and ectopia lentis; geleophysic dysplasia by progressive cardiac valvular thickening, tracheal stenosis, and/or bronchopulmonary insufficiency, often leading to early death. "
10/01/2014 - "Geleophysic dysplasia (GD), acromicric dysplasia (AD) and Weill-Marchesani syndrome (WMS) are rare disorders with overlapping characteristics, such as short stature, short hands and feet, joint limitations, skin thickening, mild facial anomalies, normal intelligence and abnormal skeletal symptoms, with GD distinct by progressive cardiac valvular thickening and WMS distinct by microspherophakia and ectopia lentis. "

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. "
11/01/2014 - "To report the short-term outcomes and complications of implantation of scleral-fixated capsular tension rings and/or capsular tension segments with intraocular lenses (IOL) in pediatric patients with ectopia lentis. "
05/01/2010 - "To evaluate binocular function (BF) and changes in axial length (AL) bilaterally in pseudophakic eyes of children after lensectomy and scleral fixation of an intraocular lens (IOL) for nontraumatic ectopia lentis. "
05/01/2010 - "Axial growth and binocular function following bilateral lensectomy and scleral fixation of an intraocular lens in nontraumatic ectopia lentis."
04/01/2008 - "Iris-sutured intraocular lenses for ectopia lentis in children."

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."

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. "

09/01/2015 - "Surgical options for intraocular lens implantation in pediatric eyes with ectopia lentis include anterior chamber intraocular lenses and iris-fixated or scleral-fixated posterior chamber intraocular lenses. "
07/01/2012 - "To report a small series of pediatric patients with ectopia lentis that underwent limbal-approach lensectomy and vitrectomy and scleral-fixated intraocular lens implantation and to review the literature on the topic of surgical management of ectopia lentis. "
01/01/2005 - "To review the visual outcome of planned pars plana lensectomy and vitrectomy with posterior chamber intraocular lens implantation for ectopia lentis in children. "
09/01/1996 - "Pars plana lensectomy-vitrectomy and anterior chamber intraocular lens implantation appears to be an excellent technique for the management of ectopia lentis associated with Marfan syndrome. "

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."
12/01/2001 - "Scleral suspension pars plana lensectomy for ectopia lentis followed by suture fixation of intraocular lens."
06/01/2001 - "Scleral suspension pars-plana lensectomy for ectopia lentis followed by suture fixation of intraocular lens."