Genetics of ectopia lentis.

Abstract:

:Hereditary ectopia lentis or lens subluxation can occur with and without systemic associations. Significant overlap can be found in the genetic mutations and pathogenesis of subluxated lenses in their isolated forms as well as with associated syndromes. Gene mutations have been identified for lens subluxation associated with Marfan syndrome, Weill Marchesani syndrome, Ectopia Lentis simplex, Ectopia Lentis et pupillae, Ehlers Danlos syndrome, homocystinuria, and sulfite oxidase deficiency. Herein we describe the ocular and systemic characteristics found in patients with ectopia lentis, as well as the gene mutations identified thus far.

journal_name

Semin Ophthalmol

authors

Sadiq MA,Vanderveen D

doi

10.3109/08820538.2013.825276

subject

Has Abstract

pub_date

2013-09-01 00:00:00

pages

313-20

issue

5-6

eissn

0882-0538

issn

1744-5205

journal_volume

28

pub_type

杂志文章,评审
  • Double extra sharp chopper increase efficacy of phacoemulsification for hard mature cataract surgery.

    abstract:OBJECTIVE:To assess the efficacy and safety of a modified double extra sharp chopper for removal of hard cataracts. DESIGN:Prospective non-comparative interventional clinical study. PARTICIPANTS:Forty eyes from 25 patients with hard mature cataract grades 3-4. METHODS:The pre-modified Koch chopper was sharpened unde...

    journal_title:Seminars in ophthalmology

    pub_type: 杂志文章

    doi:10.3109/08820538.2010.482846

    authors: Simanjuntak GW,Tan JF,Mailangkay HH

    更新日期:2010-01-01 00:00:00

  • Unruptured Giant Intracranial Aneurysm of the Internal Carotid Artery: Late Ocular Symptoms.

    abstract::An unruptured giant intracranial aneurysm of the internal carotid artery may tend to present with late ocular symptoms. This is the case of a 58-year-old female patient with a giant unruptured aneurysm of the right internal carotid artery. The patient presented with exclusively progressive reduction of visual acuity a...

    journal_title:Seminars in ophthalmology

    pub_type: 杂志文章

    doi:10.3109/08820538.2014.912548

    authors: Zorić Geber M,Krolo I,Zrinscak O,Tedeschi Reiner E,Zivkovic DJ

    更新日期:2016-01-01 00:00:00

  • Crystalline corneal deposits in monoclonal gammopathy: in-vivo confocal microscopy.

    abstract:PURPOSE:To describe the in-vivo confocal microscopy corneal findings in a patient with bilateral corneal deposits caused by an underlying monoclonal gammopathy. METHODS:A 68-year-old man came to our center for an ophthalmologic examination. Besides visual acuity, the examination included slit-lamp biomicroscopy, intra...

    journal_title:Seminars in ophthalmology

    pub_type: 杂志文章

    doi:10.3109/08820538.2012.730102

    authors: Paladini I,Pieretti G,Giuntoli M,Abbruzzese G,Menchini U,Mencucci R

    更新日期:2013-01-01 00:00:00

  • A Review of New Medications and Future Directions of Medical Therapies in Glaucoma.

    abstract:BACKGROUND:Glaucoma is one of the leading causes of blindness worldwide. Treatment is still largely targeted at lowering intraocular pressure. Intraocular pressures can be lowered through a variety of topical medications, lasers and incisional surgeries. There are currently several classes of topical medications availa...

    journal_title:Seminars in ophthalmology

    pub_type: 杂志文章

    doi:10.1080/08820538.2020.1818796

    authors: Jiang Y,Ondeck C

    更新日期:2020-08-17 00:00:00

  • Factors Associated with Patient Satisfaction in an Outpatient Glaucoma Population.

    abstract:PURPOSE:To determine what metrics might impact satisfaction survey responses. METHODS:A 37-question survey was administered to 249 participants. Responses were correlated to demographics, clinical factors, weather conditions, and examination timing. RESULTS:Sample consists of 55.4% female and 73.9% white, and mean ag...

    journal_title:Seminars in ophthalmology

    pub_type: 杂志文章

    doi:10.1080/08820538.2018.1427768

    authors: Rahmatnejad K,Myers JS,Falls ME,Myers SR,Waisbourd M,Hark LA

    更新日期:2018-01-01 00:00:00

  • Optical coherence tomography.

    abstract::The optical coherence tomograph is a new, noninvasive technical device that can obtain cross-sectional, high-resolution images-optical coherence tomographs (OCT)-of the retina. This instrument permits an accurate evaluation of various macular and chorioretinal pathologies and the early detection of glaucomatous damage...

    journal_title:Seminars in ophthalmology

    pub_type: 杂志文章,评审

    doi:10.3109/08820539809056053

    authors: Ripandelli G,Coppé AM,Capaldo A,Stirpe M

    更新日期:1998-12-01 00:00:00

  • Optical coherence tomography evaluation of macular edema after radial optic neurotomy in patients affected by central retinal vein occlusion.

    abstract:PURPOSE:To evaluate the characteristics of macular edema (ME) before and after radial optic neurotomy (RON) detected by optical coherence tomography (OCT), in patients with central retinal vein occlusion (CRVO). DESIGN:Interventional case series. METHODS:Five eyes of 5 patients affected by CRVO underwent RON. Complet...

    journal_title:Seminars in ophthalmology

    pub_type: 杂志文章

    doi:10.1080/08820530490519961

    authors: Patelli F,Radice P,Zumbo G,Fasolino G,Marchi S

    更新日期:2004-03-01 00:00:00

  • Idiopathic intracranial hypertension.

    abstract::Although the cause of IIH remains obscure, it has become clear that loss of visual function is common and patients may progress to blindness. Diagnosis should adhere to the modified Dandy criteria. Recent case-control studies cast doubt on the validity of many frequently cited conditions associated with IIH. Valid ass...

    journal_title:Seminars in ophthalmology

    pub_type: 杂志文章,评审

    doi:10.3109/08820539509060979

    authors: Wall M

    更新日期:1995-09-01 00:00:00

  • Viscoless Manual Small Incision Cataract Surgery with Trabeculectomy.

    abstract:PURPOSE:To compare the efficacy of combined manual small incision cataract and glaucoma surgery with anterior chamber maintainer (ACM) alone versus that with intraoperative viscoelastics. METHODS:Hospital electronic medical records of patients who underwent small incision cataract and trabeculectomy and intraocular le...

    journal_title:Seminars in ophthalmology

    pub_type: 杂志文章,评审

    doi:10.1080/08820538.2017.1339092

    authors: Rao A,Padhy D,Das G,Sarangi S

    更新日期:2018-01-01 00:00:00

  • Adult-Onset Ligneous Conjunctivitis with Detection of a Novel Plasminogen Gene Mutation and Anti-Plasminogen IgA Antibody: A Clinicopathologic Study and Review of Literature.

    abstract:PURPOSE:To report a novel plasminogen gene mutation and detection of anti-plasminogen antibodies in a patient with ligneous conjunctivitis successfully treated with 60% fresh frozen plasma (FFP). METHODS:Retrospective data collected on a 45-year-old Caucasian female presenting with unilateral chronic membranous lesion...

    journal_title:Seminars in ophthalmology

    pub_type: 杂志文章,评审

    doi:10.3109/08820538.2015.1005319

    authors: Tu Y,Gonzalez-Gronow M,Kolomeyer AM,Cohen A,Pruzon J,Milman T,Chu DS

    更新日期:2016-01-01 00:00:00

  • Current management strategies of acute post-operative endophthalmitis.

    abstract::The current management of acute post-operative endophthalmitis relies on microbial confirmation, intravitreal antibiotics, and vitrectomy. The endophthalmitis vitrectomy study (EVS) demonstrated that systemic antibiotics are not necessary in post-cataract/secondary intraocular lens (IOL) acute bacterial endophthalmiti...

    journal_title:Seminars in ophthalmology

    pub_type: 杂志文章,评审

    doi:10.1076/soph.18.3.109.29804

    authors: Das T,Sharma S,Hyderabad Endophthalmitis Research Group.

    更新日期:2003-09-01 00:00:00

  • Management of intracranial aneurysm causing a third cranial nerve palsy: MRA, CTA or DSA?

    abstract::The management of a patient with a suspected posterior communicating artery aneurysm is discussed with emphasis on neuroimaging including magnetic resonance angiography (MRA), computed tomography angiography (CTA) and intra-arterial digital subtraction angiography (DSA). This paper underscores the advantages and disad...

    journal_title:Seminars in ophthalmology

    pub_type: 杂志文章,评审

    doi:10.1080/08820530801978534

    authors: Vaphiades MS,Cure J,Kline L

    更新日期:2008-05-01 00:00:00

  • Characteristics of Perifoveal Exudative Vascular Anomalous Complex in Korean Patients.

    abstract::Purpose: To investigate the clinical characteristics of perifoveal exudative vascular anomalous complex (PEVAC) in Korean patients. Methods: This retrospective study included 8 eyes (8 patients) diagnosed with PEVAC. Demographic characteristics of the patients, fundus photography, optical coherence tomography (OCT), f...

    journal_title:Seminars in ophthalmology

    pub_type: 杂志文章

    doi:10.1080/08820538.2019.1626450

    authors: Kim JH,Kim JW,Kim CG,Lee DW

    更新日期:2019-01-01 00:00:00

  • Triads in Ophthalmology: A Comprehensive Review.

    abstract::Ophthalmology, like any other clinical science, is constantly evolving. As our knowledge in this field expands, we enumerate and describe classical triads of symptoms or signs with relevance to ophthalmology in this article. Characteristic clinical triads for certain systemic conditions with ocular implications are al...

    journal_title:Seminars in ophthalmology

    pub_type: 杂志文章,评审

    doi:10.3109/08820538.2015.1045150

    authors: Tripathy K,Sharma YR,Chawla R,Basu K,Vohra R,Venkatesh P

    更新日期:2017-01-01 00:00:00

  • The Effects of Consumer-grade Virtual Reality Headsets on Adult Visual Function.

    abstract:INTRODUCTION:Consumer-grade virtual reality (VR) headset is being used with increasing frequency nowadays, however, the effect on visual function is not clear. OBJECTIVES:We here investigate whether using VR headset changes adults' visual function and take into account the possible factors. METHODS:We compared the un...

    journal_title:Seminars in ophthalmology

    pub_type: 杂志文章

    doi:10.1080/08820538.2020.1776342

    authors: Long Y,Shen Y,Guo D,Wang X,Gu Y

    更新日期:2020-04-02 00:00:00

  • The Study of Interleukin-17 Level in Vernal Keratoconjunctivitis Disease and its Relationship between Symptom and Sign Severity.

    abstract:INTRODUCTION:Vernal keratoconjunctivitis (VKC) is a bilateral multi-factorial disease. The pathogenesis of this disease is not obviously determined, but the role of various inflammatory cytokines has been specified. This study has provided a comparison between the level of interleukin-17 (IL17) in the serum and tears o...

    journal_title:Seminars in ophthalmology

    pub_type: 杂志文章

    doi:10.3109/08820538.2016.1170162

    authors: Validad MH,Khazaei HA,Pishjoo M,Safdari Z

    更新日期:2017-01-01 00:00:00

  • Combined surgery with deep lamellar keratoplasty.

    abstract::The opportunity to perform two or more ophthalmic operations simultaneously has increased in recent years. In keratoplasty too, the simultaneous operation consisting of cataract extraction and IOL insertion (triple procedure) has become common. Penetrating keratoplasty (PKP) and planned extracapsular cataract extracti...

    journal_title:Seminars in ophthalmology

    pub_type: 杂志文章

    doi:10.1076/soph.16.3.126.4197

    authors: Senoo T

    更新日期:2001-09-01 00:00:00

  • Genetics of age-related macular degeneration: current concepts, future directions.

    abstract::Age-related macular degeneration (AMD) is a progressive degenerative disease which leads to blindness, affecting the quality of life of millions of Americans. More than 1.75 million individuals in the United States are affected by the advanced form of AMD. The etiological pathway of AMD is not yet fully understood, bu...

    journal_title:Seminars in ophthalmology

    pub_type: 杂志文章,评审

    doi:10.3109/08820538.2011.577129

    authors: Deangelis MM,Silveira AC,Carr EA,Kim IK

    更新日期:2011-05-01 00:00:00

  • Clinical Characteristics of 17 Patients with Moraxella Keratitis.

    abstract:PURPOSE:To retrospectively investigate the clinical characteristics of Moraxella keratitis. PATIENTS AND METHODS:We reviewed the medical records of 17 patients with Moraxella keratitis. Onset age, sex, predisposing factors, initial clinical presentations, culture and antimicrobial susceptibility testing, and managemen...

    journal_title:Seminars in ophthalmology

    pub_type: 杂志文章

    doi:10.1080/08820538.2017.1417454

    authors: Tobimatsu Y,Inada N,Shoji J,Yamagami S

    更新日期:2018-01-01 00:00:00

  • Endoresection of irradiated choroidal melanoma as a treatment for intractable vitreous hemorrhage and secondary blood-induced glaucoma.

    abstract::A 50-year-old man presented with uncontrolled erythroclastic glaucoma and recurrent vitreous hemorrhage from a previously irradiated choroidal melanoma. Despite trabeculectomy, intraocular pressure became uncontrolled due to increasing bleeding from the melanoma. The vitreous hemorrhage became voluminous and could not...

    journal_title:Seminars in ophthalmology

    pub_type: 杂志文章

    doi:10.1080/08820530801894467

    authors: Ferreyra HA,Goldbaum MH,Weinreb RN

    更新日期:2008-03-01 00:00:00

  • Cotton wool spots associated with interferon beta-1 alpha therapy.

    abstract:PURPOSE:To describe a case of cotton wool spots associated with interferon beta-1a treatment. METHODS:Observational case report. RESULTS:A 40-year-old man with a history of multiple sclerosis was on interferon beta-1a. He presented with cotton wool spots on fundus exam, which resolved and then recurred all while on t...

    journal_title:Seminars in ophthalmology

    pub_type: 杂志文章

    doi:10.1080/08820530601182725

    authors: Longmuir R,Lee AG,Rouleau J

    更新日期:2007-01-01 00:00:00

  • Quantitative Comparison of the Effect of 10% Phenylephrine Instillation and Manual Elevation in Patients with Involutional Blepharoptosis.

    abstract:OBJECTIVE:To compare the effect of 10% phenylephrine (PE) instillation and manual elevation (ME) on the upper eyelid position of the tested eye and the contralateral eye in patients with involutional blepharoptosis (IB). METHODS:IB patients were submitted to two tests followed by observation of the effect on the contr...

    journal_title:Seminars in ophthalmology

    pub_type: 杂志文章

    doi:10.3109/08820538.2015.1045152

    authors: Pereira IC,Matayoshi S

    更新日期:2017-01-01 00:00:00

  • GQ1b antibody testing in Guillain-Barre syndrome and variants.

    abstract::Guillain-Barre syndrome (GBS) is characterized by an ascending muscle paralysis with progressive loss of muscle stretch reflexes. Annually, approximately 2.4 cases per 100,000 population of GBS are reported. Variant forms do exist. These include the Fisher syndrome, GBS with ophthalmoplegia, Bickerstaff's brainstem en...

    journal_title:Seminars in ophthalmology

    pub_type: 杂志文章

    doi:10.1080/08820530601006775

    authors: Chaudhry F,Gee KE,Vaphiades MS,Biller J,Jay W

    更新日期:2006-10-01 00:00:00

  • Refractive Errors in Patients with Migraine Headache.

    abstract:PURPOSE:To evaluate refractive errors in patients with migraine headache and to compare with healthy subjects. MATERIALS AND METHODS:This prospective case-control study includes patients with migraine and age- and sex-matched healthy subjects. Clinical and demographic characteristics of the patients were noted. Detail...

    journal_title:Seminars in ophthalmology

    pub_type: 杂志文章

    doi:10.3109/08820538.2014.962177

    authors: Gunes A,Demirci S,Tok L,Tok O,Koyuncuoglu H,Yurekli VA

    更新日期:2016-01-01 00:00:00

  • Ocular manifestations and treatment of syphilis.

    abstract::Syphilis is a sexually transmitted, chronic, systemic infection caused by the spirochete Treponema pallidum. If left untreated, the disease progresses through four stages, with the potential to cause significant morbidity to any major organ of the body. Frequent syphilitic ocular manifestations, which can occur at any...

    journal_title:Seminars in ophthalmology

    pub_type: 杂志文章,评审

    doi:10.1080/08820530500232092

    authors: Kiss S,Damico FM,Young LH

    更新日期:2005-07-01 00:00:00

  • Vision-related quality of life in patients with chronic central serous chorioretinopathy.

    abstract:PURPOSE:To evaluate vision-related quality of life in patients with chronic central serous chorioretinopathy (CSCR). DESIGN:Prospective, cross-sectional study. METHODS:The interviewer-administered National Eye Institute visual function questionnaire (NEI-VFQ-25) was used in 30 adult consecutive patients with chronic ...

    journal_title:Seminars in ophthalmology

    pub_type: 杂志文章

    doi:10.3109/08820538.2013.839818

    authors: Türkcü FM,Şahin A,Bez Y,Yüksel H,Cinar Y,Kürşat Cingü A,Çaça İ

    更新日期:2015-07-01 00:00:00

  • Success Rates of Endoscopic-Assisted Probing Compared to Conventional Probing in Children 48 Months or Older.

    abstract:BACKGROUND:To evaluate the success rates of endoscopic-assisted probing compared to conventional probing in children 48 months or older. METHODS:This retrospective study included children 48 months and older with CNLDO who underwent endoscopic-assisted probing or conventional probing between January 2011 to August 201...

    journal_title:Seminars in ophthalmology

    pub_type: 杂志文章

    doi:10.1080/08820538.2017.1284872

    authors: Galindo-Ferreiro A,Khandekar R,Akaishi PM,Cruz A,Gálvez-Ruiz A,Dolmetsch A,Schellini S

    更新日期:2018-01-01 00:00:00

  • Vessel Density around Foveal Avascular Zone as a Potential Imaging Biomarker for Detecting Preclinical Diabetic Retinopathy: An Optical Coherence Tomography Angiography Study.

    abstract::Purpose: The purpose of this study was to investigate the changes of optical coherence tomography angiography (OCTA) parameters in diabetic retinopathy (DR) using an updated software with 3D projection artifact removal. Methods: In this cross-sectional observational study, 192 eyes of 111 patients with diabetes mellit...

    journal_title:Seminars in ophthalmology

    pub_type: 杂志文章

    doi:10.1080/08820538.2020.1845386

    authors: Ragkousis A,Kozobolis V,Kabanarou S,Bontzos G,Mangouritsas G,Heliopoulos I,Chatziralli I

    更新日期:2020-08-17 00:00:00

  • Detection of Glaucoma Using Image Processing Techniques: A Critique.

    abstract:OBJECTIVE:The primary objective of this article is to present a summary of different types of image processing methods employed for the detection of glaucoma, a serious eye disease. INTRODUCTION:Glaucoma affects the optic nerve in which retinal ganglion cells become dead, and this leads to loss of vision. The principa...

    journal_title:Seminars in ophthalmology

    pub_type: 杂志文章,评审

    doi:10.1080/08820538.2016.1229801

    authors: Kumar BN,Chauhan RP,Dahiya N

    更新日期:2018-01-01 00:00:00

  • Resolution of paroxysmal hemicrania after resection of intracranial meningioma.

    abstract::Paroxysmal hemicrania is a trigeminal autonomic cephalalgia first described in 1976, characterized by episodic attacks of excruciating unilateral periorbital and temporal stabbing, pulsatile, craw-like, or boring headaches lasting 2 - 30 minutes, accompanied by autonomic features, and alleviated by indomethacin. Parox...

    journal_title:Seminars in ophthalmology

    pub_type: 杂志文章

    doi:10.3109/08820531003635505

    authors: Dafer RM,Hocker S,Kumar R,McGee J,Jay WM

    更新日期:2010-01-01 00:00:00