Ectopia Lentis: Causes & Reasons

Possible Causes for Ectopia Lentis

KEYWORDS: Ectopia lentis; Homocystinuria; Non-traumatic; Pakistan [ncbi.nlm.nih.gov]

Ectopia lentis, diagnosed several years before, didn't have been considered as possible sign of a metabolic disorder. [ncbi.nlm.nih.gov]

Classic homocystinuria presents initially with ectopia lentis, mental retardation, seizures and marfanoid features. [symptoma.com]

Marfan Syndrome

We present a case of Marfan syndrome with lens coloboma in one eye and ectopia lentis in the other. A 14-year-old girl reported decreased vision in the left eye. [ncbi.nlm.nih.gov]

A related disorder, dominant ectopia lentis (EL), has also been linked genetically to this locus. [doi.org]

This condition is called ectopia lentis. [drugs.com]

Isolated Congenital Sclerocornea

lentis and megalocornea Goniodysgenesis Hereditary glaucoma Iridocorneal endothelial syndrome Iridogoniodysgenesis Isolated congenital megalocornea Isolated congenital sclerocornea [se-atlas.de]

/Congenital lens dislocation/AD/FBN1/#129600 ECTOPIA LENTIS, ISOLATED/Lens dislocation/AR/ADAMTSL4/#225100 EHLERS-DANLOS SYNDROME /Myopia, ectopia lentis, blue sclera, epicanthal [eyewiki.org]

Secondary infantile glaucoma: Retinoblastoma Juvenile Xanthogranuloma Persistent Hyperplastic Primary Vitreous (PHPV) Retinopathy of Prematurity (ROP) Trauma Ectopia lentis [epomedicine.com]

Ectopia Lentis

Ectopia lentis. Dislocated lens into the vitreous secondary to trauma. Ectopia lentis. [emedicine.medscape.com]

Entry H00662 Disease Name Ectopia lentis Description Ectopia lentis (EL) is defined as displacement or malposition of the crystalline lens of the eye and is inherited in either [genome.jp]

Ectopia lentis and blue sclera in hyperhomocysteinaemia. [nmji.in]

Lens Dislocation

Congenital Ectopia Lentis  Usually bilateral and symmetrical Simple Ectopia Lentis Ectopia Lentis et Pupillae 6. [slideshare.net]

[3] Ocular diseases associated with ectopia lentis Simple ectopia lentis – simple ectopia lentis can occur as a congenital disorder or as a spontaneous disorder later in [eyewiki.aao.org]

Ectopia lentis refers to subluxation or dislocation of the lens of the eye secondary to dysfunction or disruption of zonular fibers. [radiopaedia.org]

Bencze Syndrome

Lentis Jacobsen Syndrome Marshall Syndrome Mental And Growth Retardation With Amblyopia Mental Retardation, Anterior Maxillary Protrusion, And Strabismus Mental Retardation [familydiagnosis.com]

lentis syndrome 3 Cases 171844 Blindness-scoliosis- arachnodactyly syndrome 4 Cases 50945 Blomstrand lethal chondrodysplasia 13 Cases 125 Bloom syndrome 400 Cases 16 Blue [azkurs.org]

lentis * Blepharospasm * Blethen Wenick Hawkins syndrome Blo-Blu * Blomstrand syndrome * Blood Coagulation Disorders, Inherited * Blood platelet disorders * Blood vessel [en.academic.ru]

Bonnemann-Meinecke-Reich Syndrome

lentis syndrome 3 Cases 171844 Blindness-scoliosis- arachnodactyly syndrome 4 Cases 50945 Blomstrand lethal chondrodysplasia 13 Cases 125 Bloom syndrome 400 Cases 16 Blue [azkurs.org]

Blepharoptosis myopia ectopia lentis[?] Blepharospasm[?] Blethen Wenick Hawkins syndrome[?] Blomstrand syndrome[?] Blood Coagulation Disorders, Inherited[?] [encyclopedia.kids.net.au]

lentis Blepharospasm Blethen Wenick Hawkins syndrome Blomstrand syndrome Blood Coagulation Disorders, Inherited Blood platelet disorders Blood vessel disorder Bloom syndrome [bioreference.net]

Disorder of the Lens

What is ectopia lentis syndrome? [marfan.org]

A Aphakia C Cataract Childhood cataract Congenital cataract E Ectopia lentis G Glassblower's cataract L Lens regeneration M Microspherophakia N Nance–Horan syndrome S Soemmering [en.wikipedia.org]

Marchesani-Weill Syndrome

In 1939 Marchesani documented a boy aged eight years and three siblings in another family, all of whom had ectopia lentis. [whonamedit.com]

Weill-Mar·che·sa·ni syn·drome (vīl mahr-kā-sah'ne), [MIM*277600] ectopia lentis (lens abnormally round and small), short stature, and brachydactyly; autosomal recessive inheritance [medical-dictionary.thefreedictionary.com]

Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome

lentis Congenital cataract Rare Symptoms - Less than 30% cases Peters anomaly Ectopia pupillae Abnormal iris vasculature Posterior polar cataract Hypertension High myopia [mendelian.co]

lentis, and anterior synechiae between the iris and posterior corneal surface (summary by Cheong et al., 2016 ).In sclerocornea there is congenital, nonprogressive corneal [mendelian.co]

[…] with ectopia lentis [26], [27]. [journals.plos.org]

Goldberg-Shprintzen Syndrome

[…] age 20 years or older [1] Ectopia lentis syndrome Autosomal dominant Ectopia lentis Variable skeletal manifestations reminiscent of the Marfan syndrome Heterozygous mutations [medicinman.cz]

Other clinical manifestations of Marfan syndrome such as ectopia lentis, aortic aneurysm formation and skeletal features may also be seen in ectopia lentis syndrome, bicuspid [rwjbh.org]

Skip to content Conditions Marfan Syndrome Neonatal Marfan Syndrome Loeys-Dietz Syndrome VEDS Kyphoscoliotic EDS Stickler Syndrome Beals Syndrome Bicuspid Aortic Valve Ectopia [marfan.org]

Thickened Earlobes-Conductive Deafness Syndrome

lentis isolated Ectopia pupillae Ectopic coarctation Ectopic ossification familial type Ectopic pregnancy Ectrodactyly cardiopathy dysmorphism Ectrodactyly cleft palate syndrome [bioreference.net]

Ectopia lentis isolated[?] Ectopia pupillae[?] Ectopic coarctation[?] Ectopic ossification familial type[?] Ectopic pregnancy Ectrodactyly cardiopathy dysmorphism[?] [encyclopedia.kids.net.au]

Ectodermal dysplasia, hydrotic Ectodermal dysplasia, hypohidrotic, autosomal recessive Ectodermal dysplasia Ectodermal dysplasias Ectodermic dysplasia anhidrotic cleft lip Ectopia [bioreference.net]

Geleophysic Dysplasia

Weill-Marchesani syndrome, on the basis of microspherophakia and ectopia lentis; geleophysic dysplasia by progressive cardiac valvular thickening, tracheal stenosis, and/or [ncbi.nlm.nih.gov]

(congenital) 759.89 Ullrich-Feichtiger syndrome 759.89 VATER syndrome 759.89 Weill-Marchesani syndrome (brachymorphism and ectopia lentis) 759.89 "Whistling face" syndrome [icd9data.com]

or with a pathogenic FBN1 variant; or with a systemic score ≥7; or with ectopia lentis and FBN1 pathogenic variant. [bmcmusculoskeletdisord.biomedcentral.com]

Hyperlysinemia Type 1

"Ectopia Lentis Clinical Presentation: Causes". Medscape. WebMD LLC. Retrieved 9 December 2015. ^ Basak, Samar K. (2013). Atlas of clinical ophthalmology (Second ed.). [en.wikipedia.org]

Hyperlysinemia Hyperlysinemia is associated with ectopia lentis (a displacement or malposition of the eye's crystalline lens) in humans. [wordsimilarity.com]

Amaurosis-Hypertrichosis Syndrome

lentis-chorioretinal dystrophy-myopia syndrome Endophthalmitis Endotheliitis Essential iris atrophy Familial benign flecked retina Familial congenital palsy of trochlear [se-atlas.de]

Syndrome #4 Ectopia Lentis plus Syndrome #1 Cone rod dystrophy and amelogenesis imperfecta Cone-rod dystrophy and amelogenesis imperfecta (Jalili syndrome): phenotypes and [jalili.co.uk]

Distal monosomy 6p Duane retraction syndrome EEM syndrome Early-onset X-linked optic atrophy Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome Ectopia [se-atlas.de]

Syndromic Microphthalmia Type 10

Congenital lens dislocation AD FBN1 #129600 ECTOPIA LENTIS, ISOLATED Lens dislocation AR ADAMTSL4 #225100 EHLERS-DANLOS SYNDROME Myopia, ectopia lentis, blue sclera, epicanthal [eyewiki.aao.org]

(congenital) 759.89 Ullrich-Feichtiger syndrome 759.89 VATER syndrome 759.89 Weill-Marchesani syndrome (brachymorphism and ectopia lentis) 759.89 "Whistling face" syndrome [icd9data.com]

Progressive Retinal Dystrophy due to Retinol Transport Defect

lentis-chorioretinal dystrophy-myopia syndrome Endophthalmitis Endotheliitis Essential iris atrophy Familial benign flecked retina Familial congenital palsy of trochlear [se-atlas.de]

lentis; Ectopia pupillae; Ectrodactyly (ectodermal dysplasia, and cleft lip/palate syndrome 3); Ehlers-Danlos syndrome (progeroid form); Ehlers-Danlos syndrome (type I; type [ic.gc.ca]

Distal monosomy 6p Duane retraction syndrome EEM syndrome Early-onset X-linked optic atrophy Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome Ectopia [se-atlas.de]

Acrootoocular Syndrome

Lentis 1, Isolated, Autosomal Dominant Ectopia Lentis, Familial Ectopia Lentis, Isolated Ectopia Lentis, Isolated, Autosomal Dominant ECTOL1 129600 Genetic Test Registry [ukgtn.nhs.uk]

Deficiency of Sulfite Oxidase

The association of ectopia lentis with a movement disorder, even without psychomotor regression, should prompt us to look for this diagnosis. [ncbi.nlm.nih.gov]

This is a rare autosomal-recessive disorder presenting at birth with seizures, severe neurologic disease, and ectopia lentis. [ncbi.nlm.nih.gov]

Ectopia lentis was detected in 9 cases. [ncbi.nlm.nih.gov]

Congenital Contractural Arachnodactyly

We report on a patient with CCA with bilateral ectopia lentis and aortic root dilatation. [ncbi.nlm.nih.gov]

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. [ncbi.nlm.nih.gov]

Linkage Analysis for Ectopia Lentis Figure 1. Figure 1. Results of Genotyping for Two Fibrillin Gene Markers on Chromosome 15 in a Family with Ectopia Lentis. [nejm.org]

Disorder of Sulfur-Bearing Amino Acid Metabolism

Many patients develop ectopia lentis (lens subluxation), intellectual disability, and osteoporosis. [msdmanuals.com]

Clinical Characteristics With treatment normal IQ is possible and reduction of thromboembolic events may decrease the incidence of other sequelae, such as ectopia lentis, [medicalhomeportal.org]

lentis, progressive intellectual disability, thromboembolism Treatment: Pyridoxine, folate, betaine for unresponsive patients, low methionine diet with some L-cysteine and [msdmanuals.com]

Hydrophthalmos

lentis, Aphakia) Aniridia - Buphthalmos - Hydrophthalmos - Keratoglobus - Coloboma Ears Microtia Other face and neck Otocephaly - Webbed neck - Microstomia - Macrocheilia [bionity.com]

lentis Aphakia Iris Aniridia Anterior segment Axenfeld syndrome Cornea Keratoglobus Megalocornea Other Buphthalmos Coloboma (Coloboma of optic nerve) Hydrophthalmos Norrie [worldlibrary.org]

Lentis + Egg-Shaped Pupil exudative vitreoretinopathy + FACES Syndrome fetal erythroblastosis + Foveal Hypoplasia and Anterior Segment Dysgenesis Fronto-Facio-Nasal Dysplasia [rgd.mcw.edu]

Aniridia

Some conditions often associated with the congenital eye disorder include: Albinism Wilms tumor Ectopia Lentis Arcus Juvenilis Symptoms Symptoms of aniridia may include: Missing [babymed.com]

It can also appear with other ocular anomalies, such as cataracts, glaucoma, corneal pannus, optic nerve hypoplasia, macular hypoplasia, or ectopia lentis. [ncbi.nlm.nih.gov]

In addition, we observed corneal opacity and microphthalmus in family 1, and strabismus, left ectopia lentis, microphthalmus, and microcornea in family 2. [ncbi.nlm.nih.gov]

Knobloch Syndrome Type 1

ID Abbreviation Name OMIM ID Individuals Phenotypes Associated with genes Associated tissues Disease features 01764 - Ectopia lentis, isolated autosomal recessive 225100 16 [databases.lovd.nl]

In addition, six children had temporal ectopia lentis, found had posterior perinuclear lens opacity, two had developmental delay, one developed epilepsy, and one had heterotopic [cags.org.ae]

lentis et pupillae Ectopia lentis, isolated Exfoliation syndrome, susceptibility to Exudative vitreoretinopathy Fibrosis of extraocular muscles, congenital Fleck retina, [qlinics.com]

Oculo-Palato-Cerebral Syndrome

(congenital) 759.89 Ullrich-Feichtiger syndrome 759.89 VATER syndrome 759.89 Weill-Marchesani syndrome (brachymorphism and ectopia lentis) 759.89 "Whistling face" syndrome [icd9data.com]

lentis Bloom syndrome Blue cone monochromatism Borjeson-Forssman-Lehmann syndrome Bradyopsia Brittle cornea syndrome Brown syndrome CADASIL Carney complex Cat eye syndrome [familydiagnosis.com]

lentis) 759.89 Menkes' 759.89 glutamic acid 759.89 maple syrup (urine) disease 270.3 Meyer-Schwickerath and Weyers (dysplasia oculodentodigitalis) 759.89 microphthalmos [icdlist.com]

Oculo-Osteo-Cutaneous Syndrome

lentis Bloom syndrome Blue cone monochromatism Borjeson-Forssman-Lehmann syndrome Bradyopsia Brittle cornea syndrome Brown syndrome CADASIL Carney complex Cat eye syndrome [familydiagnosis.com]

Lentis + Epidermolysis Bullosa, Late-Onset Localized Junctional, with Mental Retardation FACES Syndrome fibrochondrogenesis + Foveal Hypoplasia and Anterior Segment Dysgenesis [rgd.mcw.edu]

Lentis Blepharoptosis-Myopia-Ectopia Lentis Syndrome Blue Cone Monochromacy Bohring-Opitz Syndrome Bone Fragility With Contractures, Arterial Rupture, And Deafness Brachymetapody-Anodontia-Hypotrichosis-Albinoidism [familydiagnosis.com]

MASS Syndrome

More than 30 mutations in the FBN1 gene have been found to cause isolated ectopia lentis. [ghr.nlm.nih.gov]

No ectopia lentis is present. [emedicine.medscape.com]

Familial Ectopia Lentis Some families show variable skeletal manifestations of MFS along with ectopia lentis. [doi.org]

Spondylo-Ocular Syndrome

In most inherited forms of ectopia lentis, findings are limited to the eye. [ommbid.mhmedical.com]

Ectopia lentis is absent. [rheumatologyadvisor.com]

Differential diagnosis of MFS Familial ectopia lentis syndrome (ELS) Per the revised Ghent nosology, diagnostic criteria for ELS include ectopia lentis and an FBN1 mutation [rheumatologyadvisor.com]

Ectopia Lentis et Pupillae

ectopia lentis, ectopia pupillae, persistent pupillary membrane, iris transillumination, and poor pupillary dilatation. [scienceopen.com]

lentis et pupillae title Ectopia lentis et pupillae spellingShingle Ectopia lentis et pupillae Marcio,Fernanda Ectopia lentis Pupillary disorders Abnormalities of the eye [oasisbr.ibict.br]

Ectopia lentis et pupillae. J Med Genet. 1991; 28: 791-794 Meire F.M. Hereditary ectopia lentis. A series of 10 cases of ectopia lentis et pupillae. [aaojournal.org]

Keratoglobus

Associated findings include anterior megalophthalmos, enlarged ciliary ring with zonular stretching (leading to phacodonesis), ectopia lentis, iridodonesis, iris stromal hypoplasia [medical-dictionary.thefreedictionary.com]

Keratoconus may be associated with : Ocular conditions e.g. ectopia lentis, congenital cataract, aniridia, retinitis pigmentosa, and vernal keratoconjunctivitis (VKC). [ophthalmologylife.blogspot.com]

Other ocular abnormalities associated with megalophthalmos anterior include iridodonesis, iris stromal hypoplasia, phacodonesis, ectopia lentis, cataracts, and pigmentary [webeye.ophth.uiowa.edu]