-
Eye (London, England) Feb 2014Ectopia lentis (EL) is a condition that can either herald underlying systemic conditions, or be isolated. The recent expansion in the genetics of these conditions has... (Review)
Review
Ectopia lentis (EL) is a condition that can either herald underlying systemic conditions, or be isolated. The recent expansion in the genetics of these conditions has furthered the understanding of the underlying molecular aetiology. It is becoming apparent that novel genes, and in particular the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) family, are important in ocular development. The common link in these genes seems to be EL. The clinical management of EL is challenging. In particular, the options for addressing surgically induced aphakia in the context of an ectopic capsule are varied. Little evidence exists to direct management of these issues. This review summarises the molecular pathogenesis of EL and conditions associated with it, using the genetic aetiology as a framework. Furthermore, it summarises some of the issues involved in its clinical management.
Topics: ADAM Proteins; Contact Lenses; Ectopia Lentis; Eyeglasses; Fibrillins; Humans; Marfan Syndrome; Microfilament Proteins; Phacoemulsification
PubMed: 24406422
DOI: 10.1038/eye.2013.274 -
Cureus Sep 2022Marfan syndrome (MFS) is a rare inherited disorder of the connective tissue with an autosomal dominant mode of inheritance which happens as a result of a mutation in the... (Review)
Review
Marfan syndrome (MFS) is a rare inherited disorder of the connective tissue with an autosomal dominant mode of inheritance which happens as a result of a mutation in the fibrillin-1 () gene located on chromosome 15q21.1. This mutation results in the defective formation of microfibrils and increased levels of active transforming growth factor beta (TGF beta), leading to defective connective tissue synthesis. These changes affect various parts of the body but most notably affected are the heart, eyes, and the musculoskeletal system. The standard presenting features of a person suffering from MFS are tall stature with a large arm span, kyphosis, congenital dislocation of the lens (ectopia lentis) and cardiovascular manifestations. The 2010 modified Ghent criteria are used to diagnose MFS on the basis of parameters such as cardiovascular, eye, and musculoskeletal disorders. The cardiovascular manifestations in a patient with MFS are the leading causes of mortality. The most common and dreaded complication is an aortic aneurysm and subsequent dissection. Cardiomyopathy and arrhythmia are also potential killers in such patients. This article aims to look at the various cardiac complications mentioned above and gain an understanding of their pathogenesis, incidence, and outcome. It also includes a brief overview of the rare complication post-Bentall graft infection, and its cause, diagnosis, and management. Various articles by several different authors from around the world were searched for information regarding the pathogenesis, incidence, and outcomes of these patients and are referenced below.
PubMed: 36340521
DOI: 10.7759/cureus.29800 -
Romanian Journal of Ophthalmology 2022In the course of time, correction of the ectopia lentis in Marfan's syndrome has been approached through quite many surgical techniques. They addressed the iris, or the... (Review)
Review
In the course of time, correction of the ectopia lentis in Marfan's syndrome has been approached through quite many surgical techniques. They addressed the iris, or the lens and aimed at increasing the aphakic zone, the opacification or removal of the lens. Although associated to many complications, the first techniques proved the courage and imagination of pioneer surgeons and are worth mentioning. They were steps towards the invention of current techniques and devices that make surgery of ectopia lentis safe, easy, and having a favorable prognosis.
Topics: Ectopia Lentis; Humans; Iris; Lens, Crystalline; Marfan Syndrome
PubMed: 35531445
DOI: 10.22336/rjo.2022.2 -
BMJ Open Jun 2023Congenital ectopia lentis (CEL) is a rare ocular disease characterised by the dislocation or displacement of the lens. Patients with mild lens dislocations can be...
INTRODUCTION
Congenital ectopia lentis (CEL) is a rare ocular disease characterised by the dislocation or displacement of the lens. Patients with mild lens dislocations can be treated with conservative methods (eg, corrective eyeglasses or contact lenses). In contrast, patients with severe CEL usually require surgical management. However, few studies have focused on the visual prognosis and complications in conservative and surgical management of patients. This study aims to investigate the prognosis and complications in patients with CEL with conservative and surgical management, which is vital for CEL management, especially the choice of surgical timing and surgical method.
METHODS AND ANALYSIS
A cohort study will be conducted at Zhongshan Ophthalmic Center. We plan to recruit 604 participants diagnosed with CEL and aged ≥3 years old. Patients with mild lens subluxation and stable visual conditions will be included in the non-surgical group and follow-up at 1, 2 and 3 years after enrolment. Patients with severe lens subluxation who accept CEL surgery will be included in the surgical group. Different surgical techniques, including phacoemulsification, in-the-bag intraocular lens implantation (with or without capsular tension ring) and trans-scleral fixation, will be used depending on the severity of dislocation. Patients will be followed up at 3 months, and 1, 2 and 3 years postoperatively. Over a 5-year follow-up period, patients will receive a detailed ocular examination, including optometry, biological measurement, specular microscopy, ultrasound biomicroscopy, anterior segment and posterior segment optical coherence tomography (OCT), OCT angiography, echocardiography and questionnaires on vision-related quality of life. The primary outcome is the change of best-corrected visual acuity and the incidence of complications in both groups.
ETHICS AND DISSEMINATION
Ethics approval was obtained from the ethics committee of the Zhongshan Ophthalmic Center (number: 2022KYPJ207). Study findings will be published in a peer-reviewed journal.
TRIAL REGISTRATION NUMBER
NCT05654025.
Topics: Child, Preschool; Humans; Cohort Studies; Ectopia Lentis; Lens Subluxation; Postoperative Complications; Prognosis; Quality of Life; Visual Acuity
PubMed: 37369426
DOI: 10.1136/bmjopen-2023-072542 -
International Journal of Ophthalmology 2020To compare whether aphakic contact lenses or secondary iris-claw intraocular lenses are superior in the refractive management post-pars plana vitreolensectomy in a...
AIM
To compare whether aphakic contact lenses or secondary iris-claw intraocular lenses are superior in the refractive management post-pars plana vitreolensectomy in a pedigree with an mutation causing non-syndromic ectopia lentis (NSEL) with retinal detachment (RD).
METHODS
Eight affected individuals had pars plana vitreolensectomy for bilateral ectopia lentis (EL). Twelve eyes of 6 patients had secondary iris-claw intraocular lenses inserted and 4 eyes of 2 patients were managed with contact lenses. Rhegmatogenous retinal detachment (RRD) was treated when necessary. Pre- and post-operative assessment included visual acuity, endothelial cell count and dilated fundal examination.
RESULTS
Macula-on RRD was present in all individuals >18y, 64% (7/11 eyes) presenting post-vitreolensectomy with 57% having bilateral non-synchronous RRD. Surgical aphakia was managed with iris-fixated intraocular lenses (IOL group, =6), or contact lenses (CL group, =2). Visual acuity ≥0.3 logMAR (driving standard) was achieved in 75% of IOL group eyes and 25% of the CL group eyes. Mean loss of corneal endothelial cell count in the IOL group was 4% at 2y post-operative.
CONCLUSION
In this cohort, refractive management with iris-claw IOLs provided superior outcomes to contact lenses and the authors recommend this as the optimal refractive correction in EL patients.
PubMed: 32685406
DOI: 10.18240/ijo.2020.07.21 -
Nutrients Dec 2023Hyperhomocysteinemia (HHcy) is recognized as an independent risk factor for various significant medical conditions, yet controversy persists around its assessment and... (Review)
Review
Hyperhomocysteinemia (HHcy) is recognized as an independent risk factor for various significant medical conditions, yet controversy persists around its assessment and management. The diagnosis of disorders afffecting homocysteine (Hcy) metabolism faces delays due to insufficient awareness of its clinical presentation and unique biochemical characteristics. In cases of arterial or venous thrombotic vascular events, particularly with other comorbidities, it is crucial to consider moderate to severe HHcy. A nutritional approach to HHcy management involves implementing dietary strategies and targeted supplementation, emphasizing key nutrients like vitamin B6, B12, and folate that are crucial for Hcy conversion. Adequate intake of these vitamins, along with betaine supplementation, supports Hcy remethylation. Lifestyle modifications, such as smoking cessation and regular physical activity, complement the nutritional approach to enhance Hcy metabolism. For individuals with HHcy, maintaining a plasma Hcy concentration below 50 μmol/L consistently is vital to lowering the risk of vascular events. Collaboration with healthcare professionals and dietitians is essential for developing personalized dietary plans addressing the specific needs and underlying health conditions. This integrated approach aims to optimize metabolic processes and reduce the associated health risks.
Topics: Adult; Humans; Hyperhomocysteinemia; Metabolic Diseases; Arteries; Vitamins; Behavior Therapy
PubMed: 38201964
DOI: 10.3390/nu16010135 -
Molecular Genetics & Genomic Medicine May 2023Congenital ectopia lentis (EL) refers to the congenital dysplasia or weakness of the lens suspensory ligament, resulting in an abnormal position of the crystalline lens,...
BACKGROUND
Congenital ectopia lentis (EL) refers to the congenital dysplasia or weakness of the lens suspensory ligament, resulting in an abnormal position of the crystalline lens, which can appear as isolated EL or as an ocular manifestation of a syndrome, such as the Marfan syndrome. The fibrillin-1 protein encoded by the FBN1 gene is an essential component of the lens zonules. Mutations in FBN1 are the leading causes of congenital EL and Marfan syndrome. Owing to the complexity and individual heterogeneity of FBN1 gene mutations, the correlation between FBN1 mutation characteristics and various clinical phenotypes remains unclear.
METHODS
This study describes the clinical characteristics and identifies possible causative genes in eight families with Marfan syndrome or isolated EL using Sanger and whole-exome sequencing.
RESULTS
Eight FBN1 mutations were identified in these families, of which three (c.5065G > C, c.1600 T > A, and c.2210G > C) are reported for the first time. Based on in silico analyses, we hypothesized that these mutations may be pathogenic by affecting the fibrillin-1 protein structure and function.
CONCLUSION
These findings expand the number of known mutations involved in EL and provide a reference for the research on their genotype and phenotype associations.
Topics: Humans; East Asian People; Ectopia Lentis; Fibrillin-1; Fibrillins; Marfan Syndrome
PubMed: 36670079
DOI: 10.1002/mgg3.2140 -
Diagnostics (Basel, Switzerland) Jul 2023Marfan syndrome (MFS) is a rare inherited autosomic disorder, which encompasses a variety of systemic manifestations caused by mutations in the Fibrillin-1 encoding gene... (Review)
Review
Marfan syndrome (MFS) is a rare inherited autosomic disorder, which encompasses a variety of systemic manifestations caused by mutations in the Fibrillin-1 encoding gene (). Cardinal clinical phenotypes of MFS are highly variable in terms of severity, and commonly involve cardiovascular, ocular, and musculoskeletal systems with a wide range of manifestations, such as ascending aorta aneurysms and dissection, mitral valve prolapse, ectopia lentis and long bone overgrowth, respectively. Of note, an accurate and prompt diagnosis is pivotal in order to provide the best treatment to the patients as early as possible. To date, the diagnosis of the syndrome has relied upon a systemic score calculation as well as DNA mutation identification. The aim of this review is to summarize the latest MFS evidence regarding the definition, differences and similarities with other connective tissue pathologies with severe systemic phenotypes (e.g., Autosomal dominant Weill-Marchesani syndrome, Loeys-Dietz syndrome, Ehlers-Danlos syndrome) and clinical assessment. In this regard, the management of MFS requires a multidisciplinary team in order to accurately control the evolution of the most severe and potentially life-threatening complications. Based on recent findings in the literature and our clinical experience, we propose a multidisciplinary approach involving specialists in different clinical fields (i.e., cardiologists, surgeons, ophthalmologists, orthopedics, pneumologists, neurologists, endocrinologists, geneticists, and psychologists) to comprehensively characterize, treat, and manage MFS patients with a personalized medicine approach.
PubMed: 37443678
DOI: 10.3390/diagnostics13132284 -
Oman Journal of Ophthalmology 2023
PubMed: 37007252
DOI: 10.4103/ojo.ojo_278_2019 -
Therapeutic Advances in Rare Disease 2021Marfan syndrome (MFS) is an autosomal dominantly inherited disorder affecting the cardiovascular, ocular and musculoskeletal systems. Frequently, clinical suspicion and... (Review)
Review
Marfan syndrome (MFS) is an autosomal dominantly inherited disorder affecting the cardiovascular, ocular and musculoskeletal systems. Frequently, clinical suspicion and subsequent diagnosis begins in the ophthalmology clinic. Importantly, the ophthalmologist has a responsibility to cater not only to the eye, but also to be involved in a holistic approach for these patients. In this review, we discuss how MFS may present to an eye clinic, including clinical features, ocular morbidity, genetic diagnosis and management. Although this condition is ideally managed by a multidisciplinary team, our focus will be on MFS and the eye, including other conditions which may present with similar phenotypes. The ophthalmologist's role as the potential first contact for a patient with suspected MFS is crucial in making the proper investigations and referral, with the knowledge that not all ectopia lentis cases are MFS and vice versa. Management of ocular conditions in MFS may range from simple observation to surgical intervention; current options will be discussed.
PubMed: 37181104
DOI: 10.1177/26330040211055738