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]
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]
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. 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]
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]
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]
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]
[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]
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]
[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]
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]
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]
[…] 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]
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]
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]
[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 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]
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]
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 lens dislocation/AD/FBN1/#129600 ECTOPIA LENTIS, ISOLATED/Lens dislocation/AR/ADAMTSL4/#225100 EHLERS-DANLOS SYNDROME /Myopia, ectopia lentis, blue sclera, epicanthal
[eyewiki.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]
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]
/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]
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]
Lentis 1, Isolated, Autosomal Dominant Ectopia Lentis, Familial Ectopia Lentis, Isolated Ectopia Lentis, Isolated, Autosomal Dominant ECTOL1 129600 Genetic Test Registry
[ukgtn.nhs.uk]
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]
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]
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]
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]
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]
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]
(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]
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]
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]
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, 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]
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]