NEW ENGLAND JOURNAL OF MEDICINE, ISSN 0028-4793, 09/2017, Volume 377, Issue 11, pp. 1076 - 1076
Journal Article
Clinical Genetics, ISSN 0009-9163, 03/2015, Volume 87, Issue 3, pp. 284 - 287
Inherited ectopia lentis (EL) is most commonly caused by Marfan syndrome (MFS), a multisystemic disorder caused by mutations in FBN1. Historically the...
mutation | isolated ectopia lentis | ectopia lentis | Marfan syndrome | FBN1 | Mutation | Isolated ectopia lentis | Ectopia lentis | FBN1 GENE MUTATION | ADAMTSL4 MUTATIONS | MARFAN-SYNDROME | GENETICS & HEREDITY | DIAGNOSTIC-CRITERIA | CHINESE FAMILY | IDENTIFICATION | Fibrillin-1 | Phenotype | Humans | Fibrillins | Genotype | Ectopia Lentis - diagnosis | Ectopia Lentis - genetics | Microfilament Proteins - genetics | Genetic disorders | Life Sciences | Human health and pathology | Genetics | Sensory Organs | Human genetics
mutation | isolated ectopia lentis | ectopia lentis | Marfan syndrome | FBN1 | Mutation | Isolated ectopia lentis | Ectopia lentis | FBN1 GENE MUTATION | ADAMTSL4 MUTATIONS | MARFAN-SYNDROME | GENETICS & HEREDITY | DIAGNOSTIC-CRITERIA | CHINESE FAMILY | IDENTIFICATION | Fibrillin-1 | Phenotype | Humans | Fibrillins | Genotype | Ectopia Lentis - diagnosis | Ectopia Lentis - genetics | Microfilament Proteins - genetics | Genetic disorders | Life Sciences | Human health and pathology | Genetics | Sensory Organs | Human genetics
Journal Article
Journal francais d'ophtalmologie, 02/2019, Volume 42, Issue 2, p. 219
Diagnosis, Differential | Homocystinuria - therapy | Humans | Homocystinuria - complications | Child, Preschool | Ectopia Lentis - etiology | Slit Lamp Microscopy | Combined Modality Therapy | Ectopia Lentis - therapy | Pyridoxine - therapeutic use | Female | Vitrectomy | Diet Therapy | Ectopia Lentis - diagnosis | Homocystinuria - diagnosis
Journal Article
Seminars in Ophthalmology, ISSN 0882-0538, 9/2013, Volume 28, Issue 5-6, pp. 313 - 320
Abstract Hereditary ectopia lentis or lens subluxation can occur with and without systemic associations. Significant overlap can be found in the genetic...
marfan | homocystinuria | sulfite oxidase deficiency | weill marchesani | subluxated lens | Ehler Danlos | Sulfite oxidase deficiency | Weill marchesani | Homocystinuria | Marfan | Subluxated lens | GENOTYPE-PHENOTYPE CORRELATIONS | CYSTATHIONINE BETA-SYNTHASE | FIBRILLIN GENE | WEILL-MARCHESANI-SYNDROME | FAMILIAL HYPERLYSINEMIA | MARFAN-SYNDROME | FUNCTIONAL-ANALYSIS | OPHTHALMOLOGY | CULTURED FIBROBLASTS | EHLERS-DANLOS-SYNDROME | Ectopia Lentis - genetics | Humans | Mutation
marfan | homocystinuria | sulfite oxidase deficiency | weill marchesani | subluxated lens | Ehler Danlos | Sulfite oxidase deficiency | Weill marchesani | Homocystinuria | Marfan | Subluxated lens | GENOTYPE-PHENOTYPE CORRELATIONS | CYSTATHIONINE BETA-SYNTHASE | FIBRILLIN GENE | WEILL-MARCHESANI-SYNDROME | FAMILIAL HYPERLYSINEMIA | MARFAN-SYNDROME | FUNCTIONAL-ANALYSIS | OPHTHALMOLOGY | CULTURED FIBROBLASTS | EHLERS-DANLOS-SYNDROME | Ectopia Lentis - genetics | Humans | Mutation
Journal Article
Lancet, The, ISSN 0140-6736, 2014, Volume 384, Issue 9946, pp. 893 - 893
The patient was healthy and had no clinical features of Marfan syndrome or other associated diseases.
Internal Medicine | MEDICINE, GENERAL & INTERNAL | Young Adult | Ectopia Lentis - physiopathology | Vision Disorders - physiopathology | Humans | Male | Ectopia Lentis - diagnosis | Visual Acuity - physiology | Vision Disorders - etiology | Medical diagnosis | Eye diseases | Marfan syndrome
Internal Medicine | MEDICINE, GENERAL & INTERNAL | Young Adult | Ectopia Lentis - physiopathology | Vision Disorders - physiopathology | Humans | Male | Ectopia Lentis - diagnosis | Visual Acuity - physiology | Vision Disorders - etiology | Medical diagnosis | Eye diseases | Marfan syndrome
Journal Article
MEDICINE, ISSN 0025-7974, 03/2017, Volume 96, Issue 11, p. e6342
Rationale: Although transscleral-fixated intraocular lens (IOL) implantation has been the most frequently chosen treatment for patients with inadequate capsule...
MEDICINE, GENERAL & INTERNAL | dark environment | pupillary capture | DISLOCATION | IMPLANTATION | PREVENTION | congenital ectopialentis patient | transscleralfixation | IN-THE-BAG | Lens Implantation, Intraocular - adverse effects | Darkness | Lenses, Intraocular - adverse effects | Slit Lamp | Postoperative Complications - physiopathology | Pupil Disorders - etiology | Humans | Pupil Disorders - physiopathology | Female | Ectopia Lentis - surgery | Child
MEDICINE, GENERAL & INTERNAL | dark environment | pupillary capture | DISLOCATION | IMPLANTATION | PREVENTION | congenital ectopialentis patient | transscleralfixation | IN-THE-BAG | Lens Implantation, Intraocular - adverse effects | Darkness | Lenses, Intraocular - adverse effects | Slit Lamp | Postoperative Complications - physiopathology | Pupil Disorders - etiology | Humans | Pupil Disorders - physiopathology | Female | Ectopia Lentis - surgery | Child
Journal Article
New England Journal of Medicine, ISSN 0028-4793, 2014, Volume 371, Issue 19, p. e28
Journal Article
Journal of Pediatrics, The, ISSN 0022-3476, 2015, Volume 166, Issue 4, pp. 1091 - 1091
Journal Article
Ophthalmology, ISSN 0161-6420, 09/2017, Volume 124, Issue 9, pp. 1313 - 1313
Glaucoma - etiology | Administration, Ophthalmic | Corneal Diseases - etiology | Humans | Corneal Diseases - drug therapy | Ectopia Lentis - etiology | Glaucoma - drug therapy | Male | Mydriatics - therapeutic use | Ectopia Lentis - drug therapy | Iris - abnormalities | Pupil - drug effects | Ophthalmic Solutions | Adult | Marfan Syndrome - complications
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 11/2009, Volume 85, Issue 5, pp. 558 - 568
Weill-Marchesani syndrome (WMS) is a well-characterized disorder in which patients develop eye and skeletal abnormalities. Autosomal-recessive and...
GENE | MARFAN-SYNDROME | DISEASE | GENETICS & HEREDITY | METALLOPROTEINASES | EXPRESSION | DOMAINS | WEILL-MARCHESANI-SYNDROME | PROTEASES | FAMILY | FBN1 | Immunohistochemistry | Gene Expression | Humans | Nuclear Family | Male | Mutation, Missense | Genes, Recessive | Sequence Analysis, DNA | Case-Control Studies | DNA - genetics | Myopia - genetics | DNA - isolation & purification | Dwarfism - genetics | Homozygote | Protein Isoforms - metabolism | Pedigree | ADAMTS Proteins | Female | Mutation | ADAM Proteins - genetics | Glaucoma - genetics | Ectopia Lentis - genetics | Genetic Linkage | Protein Isoforms - genetics | Gene mutations | Analysis | Myopia | Genetic aspects | Chemical properties | Alpha galactosidases | Fabry's disease
GENE | MARFAN-SYNDROME | DISEASE | GENETICS & HEREDITY | METALLOPROTEINASES | EXPRESSION | DOMAINS | WEILL-MARCHESANI-SYNDROME | PROTEASES | FAMILY | FBN1 | Immunohistochemistry | Gene Expression | Humans | Nuclear Family | Male | Mutation, Missense | Genes, Recessive | Sequence Analysis, DNA | Case-Control Studies | DNA - genetics | Myopia - genetics | DNA - isolation & purification | Dwarfism - genetics | Homozygote | Protein Isoforms - metabolism | Pedigree | ADAMTS Proteins | Female | Mutation | ADAM Proteins - genetics | Glaucoma - genetics | Ectopia Lentis - genetics | Genetic Linkage | Protein Isoforms - genetics | Gene mutations | Analysis | Myopia | Genetic aspects | Chemical properties | Alpha galactosidases | Fabry's disease
Journal Article
Eye (Basingstoke), ISSN 0950-222X, 03/2019, Volume 33, Issue 3, pp. 516 - 517
Journal Article
National Medical Journal of India, ISSN 0970-258X, 05/2017, Volume 30, Issue 3, pp. 176 - 176
MEDICINE, GENERAL & INTERNAL | Hyperhomocysteinemia - blood | Humans | Ectopia Lentis - blood | Lens, Crystalline - surgery | Homocysteine - blood | Ectopia Lentis - etiology | Sclera - pathology | Female | Hyperhomocysteinemia - diagnosis | Ectopia Lentis - diagnosis | Ectopia Lentis - surgery | Child | Hyperhomocysteinemia - complications
Journal Article
Journal of Pediatric Ophthalmology and Strabismus, ISSN 0191-3913, 2015, Volume 52, Issue 5, pp. 269 - 281
Ectopia lentis refers to displacement of the crystalline lens in the setting of various systemic and metabolic disorders. A literature review was conducted to...
CAPSULAR TENSION RING | VISUAL-ACUITY | ANTERIOR VITRECTOMY | CHAMBER INTRAOCULAR-LENS | LIMBAL LENSECTOMY | OPHTHALMOLOGY | SUBLUXATED LENSES | PEDIATRICS | PARS-PLANA LENSECTOMY | SURGICAL-MANAGEMENT | DISLOCATED LENSES | CATARACT-SURGERY | Amblyopia - therapy | Lens Implantation, Intraocular - methods | Ectopia Lentis - therapy | Vision Disorders - rehabilitation | Humans | Ectopia Lentis - complications
CAPSULAR TENSION RING | VISUAL-ACUITY | ANTERIOR VITRECTOMY | CHAMBER INTRAOCULAR-LENS | LIMBAL LENSECTOMY | OPHTHALMOLOGY | SUBLUXATED LENSES | PEDIATRICS | PARS-PLANA LENSECTOMY | SURGICAL-MANAGEMENT | DISLOCATED LENSES | CATARACT-SURGERY | Amblyopia - therapy | Lens Implantation, Intraocular - methods | Ectopia Lentis - therapy | Vision Disorders - rehabilitation | Humans | Ectopia Lentis - complications
Journal Article
American journal of medical genetics. Part A, ISSN 1552-4825, 2015, Volume 167, Issue 10, pp. 2376 - 2381
ADAMTSL4 mutations seem to be the most common cause of isolated ectoplia lentis (EL) and thus are important concerning the differential diagnosis of connective...
marfan syndrome | aortic root dilatation | high myopia | ectopia lentis | ADAMTSL4 | anterior segment malformations | Anterior segment malformations | High myopia | Aortic root dilatation | Ectopia lentis | Marfan syndrome | ADAMTSL4 MUTATIONS | FORM-DEPRIVATION MYOPIA | EYE | GENE | MARFAN-SYNDROME | GENETICS & HEREDITY | FBN1 | Thrombospondins - genetics | Humans | Child, Preschool | Molecular Sequence Data | Infant | Male | Lens, Crystalline - pathology | DNA Mutational Analysis | Base Sequence | ADAMTS Proteins | Adult | Female | Child | Ectopia Lentis - pathology | Gene Expression | Aorta - anatomy & histology | Lens, Crystalline - metabolism | Genotype | Myopia - pathology | Myopia - genetics | Homozygote | Phenotype | Pedigree | Adolescent | Ectopia Lentis - diagnosis | Mutation | Ectopia Lentis - genetics | Eye | Phenotypes | Myopia | Aorta | Differential diagnosis | Patients
marfan syndrome | aortic root dilatation | high myopia | ectopia lentis | ADAMTSL4 | anterior segment malformations | Anterior segment malformations | High myopia | Aortic root dilatation | Ectopia lentis | Marfan syndrome | ADAMTSL4 MUTATIONS | FORM-DEPRIVATION MYOPIA | EYE | GENE | MARFAN-SYNDROME | GENETICS & HEREDITY | FBN1 | Thrombospondins - genetics | Humans | Child, Preschool | Molecular Sequence Data | Infant | Male | Lens, Crystalline - pathology | DNA Mutational Analysis | Base Sequence | ADAMTS Proteins | Adult | Female | Child | Ectopia Lentis - pathology | Gene Expression | Aorta - anatomy & histology | Lens, Crystalline - metabolism | Genotype | Myopia - pathology | Myopia - genetics | Homozygote | Phenotype | Pedigree | Adolescent | Ectopia Lentis - diagnosis | Mutation | Ectopia Lentis - genetics | Eye | Phenotypes | Myopia | Aorta | Differential diagnosis | Patients
Journal Article
Eye (Basingstoke), ISSN 0950-222X, 2014, Volume 28, Issue 2, pp. 162 - 168
Ectopia lentis (EL) is a condition that can either herald underlying systemic conditions, or be isolated. The recent expansion in the genetics of these...
vitreolensectomy | ectopia lentis | Marfan syndrome | FBN1 MUTATION | ADAMTSL4 MUTATIONS | WEILL-MARCHESANI | CHINESE FAMILY | IDENTIFICATION | PARS-PLANA VITRECTOMY | GENE | MARFAN-SYNDROME | FIBRILLIN-1 | OPHTHALMOLOGY | EXPRESSION | Contact Lenses | Ectopia Lentis - therapy | Humans | Fibrillins | Phacoemulsification | ADAM Proteins - genetics | Ectopia Lentis - genetics | Eyeglasses | Microfilament Proteins - genetics | Marfan Syndrome - genetics | Cambridge Ophthalmological Symposium
vitreolensectomy | ectopia lentis | Marfan syndrome | FBN1 MUTATION | ADAMTSL4 MUTATIONS | WEILL-MARCHESANI | CHINESE FAMILY | IDENTIFICATION | PARS-PLANA VITRECTOMY | GENE | MARFAN-SYNDROME | FIBRILLIN-1 | OPHTHALMOLOGY | EXPRESSION | Contact Lenses | Ectopia Lentis - therapy | Humans | Fibrillins | Phacoemulsification | ADAM Proteins - genetics | Ectopia Lentis - genetics | Eyeglasses | Microfilament Proteins - genetics | Marfan Syndrome - genetics | Cambridge Ophthalmological Symposium
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 06/2015, Volume 167, Issue 6, pp. 1365 - 1368
Isolated ectopia lentis is usually autosomal dominant and commonly due to the mutations of FBN1 gene. We report on a family with ectopia lentis. The propositus...
ectopia lentis | Marfan syndrome | FBN1 | Ectopia lentis | HABITUS | PHENOTYPES | CHINESE FAMILY | IDENTIFICATION | GENE | RECURRENT | MARFAN-SYNDROME | GENETICS & HEREDITY | LINKAGE | PROBANDS | Ectopia Lentis - pathology | Fibrillin-1 | Gene Expression | Humans | Middle Aged | Child, Preschool | Fibrillins | Genotype | Male | Penetrance | Phenotype | DNA Mutational Analysis | Pedigree | Age of Onset | Aged, 80 and over | Adult | Female | Mutation | Child | Ectopia Lentis - genetics | Microfilament Proteins - genetics | Genetic research | Analysis | Genetic aspects
ectopia lentis | Marfan syndrome | FBN1 | Ectopia lentis | HABITUS | PHENOTYPES | CHINESE FAMILY | IDENTIFICATION | GENE | RECURRENT | MARFAN-SYNDROME | GENETICS & HEREDITY | LINKAGE | PROBANDS | Ectopia Lentis - pathology | Fibrillin-1 | Gene Expression | Humans | Middle Aged | Child, Preschool | Fibrillins | Genotype | Male | Penetrance | Phenotype | DNA Mutational Analysis | Pedigree | Age of Onset | Aged, 80 and over | Adult | Female | Mutation | Child | Ectopia Lentis - genetics | Microfilament Proteins - genetics | Genetic research | Analysis | Genetic aspects
Journal Article
Acta Ophthalmologica, ISSN 1755-375X, 03/2017, Volume 95, Issue 2, pp. 170 - 174
Purpose To report the feasibility and long‐term safety of lensectomy and iris‐claw intraocular lens (IOL) implantation to treat children with severe ectopia...
Marfan's syndrome | corneal endothelial cells | ectopia lentis | intraocular lens | lensectomy | paediatric aphakia | ENDOTHELIAL-CELL DENSITY | FOLLOW-UP | IOL IMPLANTATION | CATARACT-SURGERY | CHILDREN | PARS-PLANA VITRECTOMY | CONGENITAL CATARACT | POWER CALCULATION | APHAKIA | MARFAN-SYNDROME | OPHTHALMOLOGY | Iris - surgery | Prospective Studies | Follow-Up Studies | Humans | Child, Preschool | Male | Postoperative Complications - epidemiology | Lenses, Intraocular | Prosthesis Design | Incidence | Ectopia Lentis - physiopathology | Time Factors | Spain - epidemiology | Adolescent | Female | Lens Implantation, Intraocular - methods | Ectopia Lentis - surgery | Child | Visual Acuity - physiology | Pediatrics | Cells | Endothelium
Marfan's syndrome | corneal endothelial cells | ectopia lentis | intraocular lens | lensectomy | paediatric aphakia | ENDOTHELIAL-CELL DENSITY | FOLLOW-UP | IOL IMPLANTATION | CATARACT-SURGERY | CHILDREN | PARS-PLANA VITRECTOMY | CONGENITAL CATARACT | POWER CALCULATION | APHAKIA | MARFAN-SYNDROME | OPHTHALMOLOGY | Iris - surgery | Prospective Studies | Follow-Up Studies | Humans | Child, Preschool | Male | Postoperative Complications - epidemiology | Lenses, Intraocular | Prosthesis Design | Incidence | Ectopia Lentis - physiopathology | Time Factors | Spain - epidemiology | Adolescent | Female | Lens Implantation, Intraocular - methods | Ectopia Lentis - surgery | Child | Visual Acuity - physiology | Pediatrics | Cells | Endothelium
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 02/2009, Volume 84, Issue 2, pp. 274 - 278
Ectopia lentis is a genetically heterogeneous condition that is characterized by the subluxation of the lens resulting from the disruption of the zonular...
GENETIC-LINKAGE | ALLEGRO | MYOPIA | LENS SUBLUXATION | MARFAN-SYNDROME | GENETICS & HEREDITY | FAMILY | Thrombospondins - genetics | Humans | Male | Genetic Markers | Genes, Recessive | Lod Score | Homozygote | Pedigree | Base Sequence | ADAMTS Proteins | Female | Consanguinity | Polymorphism, Single Nucleotide | Mutation | Jordan | Ectopia Lentis - genetics | Siblings | Polymerase chain reaction | Care and treatment | Usage | Gene mutations | Analysis | Genetic aspects | Diagnosis | Marfan syndrome | RNA | Genes | Medical genetics | Report
GENETIC-LINKAGE | ALLEGRO | MYOPIA | LENS SUBLUXATION | MARFAN-SYNDROME | GENETICS & HEREDITY | FAMILY | Thrombospondins - genetics | Humans | Male | Genetic Markers | Genes, Recessive | Lod Score | Homozygote | Pedigree | Base Sequence | ADAMTS Proteins | Female | Consanguinity | Polymorphism, Single Nucleotide | Mutation | Jordan | Ectopia Lentis - genetics | Siblings | Polymerase chain reaction | Care and treatment | Usage | Gene mutations | Analysis | Genetic aspects | Diagnosis | Marfan syndrome | RNA | Genes | Medical genetics | Report
Journal Article
Klinische Monatsblatter fur Augenheilkunde, 03/2015, Volume 232, Issue 3, p. 259
If not due to trauma, ectopia lentis is usually caused genetically. It is a main symptom of several syndromal disorders such as Marfan syndrome or...
Diagnosis, Differential | Genetic Predisposition to Disease - genetics | Molecular Diagnostic Techniques - methods | Thrombospondins - genetics | Humans | DNA Mutational Analysis - methods | Genetic Testing - methods | Algorithms | Genetic Markers - genetics | Polymorphism, Single Nucleotide - genetics | ADAMTS Proteins | Ectopia Lentis - diagnosis | Mutation | Ectopia Lentis - genetics
Diagnosis, Differential | Genetic Predisposition to Disease - genetics | Molecular Diagnostic Techniques - methods | Thrombospondins - genetics | Humans | DNA Mutational Analysis - methods | Genetic Testing - methods | Algorithms | Genetic Markers - genetics | Polymorphism, Single Nucleotide - genetics | ADAMTS Proteins | Ectopia Lentis - diagnosis | Mutation | Ectopia Lentis - genetics
Journal Article
American Journal of Ophthalmology, ISSN 0002-9394, 2014, Volume 158, Issue 5, pp. 899 - 904.e1
Purpose To report the short-term outcomes and complications of implantation of scleral-fixated capsular tension rings and/or capsular tension segments with...
Ophthalmology | SURGERY | VITRECTOMY | SUPPORT | MANAGEMENT | CHAMBER INTRAOCULAR LENSES | IMPLANTATION | DISLOCATION | OPHTHALMOLOGY | COMPLICATIONS | OUTCOMES | ZONULAR DIALYSIS | Follow-Up Studies | Humans | Child, Preschool | Male | Treatment Outcome | Sclera - surgery | Lenses, Intraocular | Phacoemulsification | Prosthesis Design | Visual Acuity | Ectopia Lentis - physiopathology | Lens Capsule, Crystalline - surgery | Time Factors | Adolescent | Female | Retrospective Studies | Ectopia Lentis - surgery | Child | Anterior Eye Segment - surgery | Suture Techniques | Health aspects | Children | Pediatrics | Patients | Marfan syndrome | Metabolic disorders
Ophthalmology | SURGERY | VITRECTOMY | SUPPORT | MANAGEMENT | CHAMBER INTRAOCULAR LENSES | IMPLANTATION | DISLOCATION | OPHTHALMOLOGY | COMPLICATIONS | OUTCOMES | ZONULAR DIALYSIS | Follow-Up Studies | Humans | Child, Preschool | Male | Treatment Outcome | Sclera - surgery | Lenses, Intraocular | Phacoemulsification | Prosthesis Design | Visual Acuity | Ectopia Lentis - physiopathology | Lens Capsule, Crystalline - surgery | Time Factors | Adolescent | Female | Retrospective Studies | Ectopia Lentis - surgery | Child | Anterior Eye Segment - surgery | Suture Techniques | Health aspects | Children | Pediatrics | Patients | Marfan syndrome | Metabolic disorders
Journal Article
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