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]
The common features of nMFS include ascending aortic dilatation, severe mitral and/or tricuspid valve insufficiency, ectopia lentis, arachnodactyly, joint contractures, crumpled
[ncbi.nlm.nih.gov]
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.com]
In the absence of trauma, ectopia lentis should evoke suspicion for concomitant hereditary systemic disease or associated ocular disorders. [4, 5] Ectopia lentis.
[emedicine.com]
Visual outcomes and complications in surgery for ectopia lentis in children. J Cataract Refract Surg. 2007 May. 33(5):819-24. [Medline]. Ectopia lentis.
[emedicine.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]
Congenital Ectopia Lentis Usually bilateral and symmetrical Simple Ectopia Lentis Ectopia Lentis et Pupillae 6.
[slideshare.net]
These data support a genetic basis for a syndromic form of ectopia lentis and the role of aspartyl hydroxylation in human development.
[ncbi.nlm.nih.gov]
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]
It is necessary to rule out homocystinuria in patients with ectopia lentis, even in the absence of systemic symptoms.
[ncbi.nlm.nih.gov]
The main ocular features of WMS are microspherophakia (small and spherical crystalline lens), ectopia lentis (a displaced or malpositioned lens), severe myopia and glaucoma
[ncbi.nlm.nih.gov]
[…] and/or ectopia lentis leading to pupillary block and secondary glaucoma.
[orpha.net]
In addition to congenital megalocornea, affected children presented with secondary glaucoma from spherophakia and/or ectopia lentis.
[ncbi.nlm.nih.gov]
lentis, glaucoma, brachydactyly, brachycephaly Weill-Mar·che·sa·ni syn·drome ( vīl'mahr-kĕ-sah'nē sin'drōm ) Ectopia lentis (lens abnormally round and small), short stature
[medical-dictionary.thefreedictionary.com]
Simple dominant ectopia lentis. Pathogenic variants in FBN1 have been identified in some families. Inheritance is autosomal dominant. Ectopia lentis and pupilae.
[ncbi.nlm.nih.gov]
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
[medical-dictionary.thefreedictionary.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]
What is ectopia lentis syndrome?
[marfan.org]
Dislocation of the Lens (Ectopia Lentis) Ectopia lentis. Lens in anterior chamber. 61. Thank you 62. Thank you
[slideshare.net]
lentis Blepharospasm Blethen Wenick Hawkins syndrome Blomstrand syndrome Blood Coagulation Disorders, Inherited Blood platelet disorders Blood vessel disorder Bloom syndrome
[bioreference.net]
Blepharoptosis myopia ectopia lentis[?] Blepharospasm[?] Blethen Wenick Hawkins syndrome[?] Blomstrand syndrome[?] Blood Coagulation Disorders, Inherited[?]
[encyclopedia.kids.net.au]
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]
[…] 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]
الصفحة 896 - Genetic linkage of the Marfan syndrome, ectopia lentis, and congenital contractural arachnodactyly to the fibrillin genes on chromosomes 15 and 5.
[books.google.com]
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]
Lentis Jacobsen Syndrome Marshall Syndrome Mental And Growth Retardation With Amblyopia Mental Retardation, Anterior Maxillary Protrusion, And Strabismus Mental Retardation
[familydiagnosis.com]
lentis * Blepharospasm * Blethen Wenick Hawkins syndrome Blo-Blu * Blomstrand syndrome * Blood Coagulation Disorders, Inherited * Blood platelet disorders * Blood vessel
[en.academic.ru]
lentis Blepharospasm Blethen Wenick Hawkins syndrome Blo-Blu Blomstrand syndrome Blood Coagulation Disorders, Inherited Blood platelet disorders Blood vessel disorder Bloom
[wikidoc.org]
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]
Syndrome cystic fibrosis De Hauwere syndrome Desanto-Shinawi Syndrome Diffuse Renal Mesangial Sclerosis, with Ocular Abnormalities Dwarfism Stiff Joint Ocular Abnormalities Ectopia
[rgd.mcw.edu]
[…] blepharoptosis from birth, high grade myopia, and ectopia lentis, present in one of the daughters since at least age 4 years.
[omim.org]
MalaCards based summary : Blepharoptosis, Myopia, and Ectopia Lentis, is also known as blepharoptosis myopia ectopia lentis.
[malacards.org]
Ectopia lentis (dislocated lenses of the eye) and nearsightedness are common features among hereditary disorders.
[disorders.eyes.arizona.edu]
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]
lentis, nystagmus, and photophobia, all of which generally result in poor vision.
[orpha.net]
Ectopia lentis may be a feature of numerous systemic and ocular disorders.
[ncbi.nlm.nih.gov]
lentis [ 7, 10, 11 ].
[omicsonline.org]
Another frequent feature is ectopia lentis and a lens notch. Cataract can be present.
[reviewofophthalmology.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]
We here describe an isolated form of ectopia lentis in a large inbred family that shows autosomal-recessive inheritance.
[ncbi.nlm.nih.gov]
Isolated ectopia lentis usually becomes apparent in childhood. The lens may drift further off-center over time. Vision problems are common in isolated ectopia lentis.
[ghr.nlm.nih.gov]
Prognosis - Ectopia lentis isolated Not supplied. Treatment - Ectopia lentis isolated Not supplied. Resources - Ectopia lentis isolated Not supplied.
[checkorphan.org]
Lentis Epidermolysis Bullosa, Late-Onset Localized Junctional, with Mental Retardation FACES Syndrome fibrochondrogenesis Foveal Hypoplasia and Anterior Segment Dysgenesis
[rgd.mcw.edu]
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 Blepharospasm Blethen Wenick Hawkins syndrome Blomstrand syndrome Blood Coagulation Disorders, Inherited Blood platelet disorders Blood vessel disorder Bloom syndrome
[bioreference.net]
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]
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]
[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]
Hyperlysinemia Hyperlysinemia is associated with ectopia lentis (a displacement or malposition of the eye's crystalline lens) in humans.
[wordsimilarity.com]
lentis 0001083 Hyperactivity More active than typical 0000752 Hyperlysinemia Elevated blood lysine 0002161 Infantile onset Onset in first year of life Onset in infancy [
[rarediseases.info.nih.gov]
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]
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]
lentis et pupillae Ectopia lentis, isolated Exfoliation syndrome, susceptibility to Exudative vitreoretinopathy Fibrosis of extraocular muscles, congenital Fleck retina,
[qlinics.com]
More than 30 mutations in the FBN1 gene have been found to cause isolated ectopia lentis.
[ghr.nlm.nih.gov]
Familial Ectopia Lentis Some families show variable skeletal manifestations of MFS along with ectopia lentis.
[doi.org]
No ectopia lentis is present.
[emedicine.medscape.com]
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]
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]
Bilateral ectopia lentis with isolated lens coloboma in Marfan syndrome Case Report Abstract A rare case of bilateral ectopia lentis with isolated lens coloboma in Marfan
[egms.de]
Lens coloboma in one eye and ectopia lentis in the other eye of a patient with Marfan syndrome Bikram Bahadur Thapa, Ramandeep Singh, Jagat Ram, Abiraj Kumar Advanced Eye
[casereports.bmj.com]
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]
lentis • Craniosynostosis/fibular aplasia • Craniotelencephalic dysplasia • Crouzon craniofacial dysostosis • Crouzono-dermo-skeletal syndrome • Curry-Jones syndrome • De
[rrnursingschool.biz]
Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism EVEN-PLUS SYNDROME Exchondrosis Of Pinna, Posterior Exocrine Pancreatic Insufficiency, Dyserythropoietic
[ctdbase.org]
Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism Erosive Arthropathy EVEN-PLUS SYNDROME Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and
[rgd.mcw.edu]
