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]
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]
Ectopia Lentis
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]
Lens Dislocation
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]
Ectopia lentis can be inherited as an isolated condition, usually autosomal dominant (simple ectopia lentis).[visualdx.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]
Homocystinuria
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]
Marchesani-Weill Syndrome
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-Marchesani syndrome and secondary glaucoma associated with ectopia lentis.[ncbi.nlm.nih.gov]
Differential Diagnosis Ectopia lentis can also occur in the following conditions [ Fuchs & Rosenberg 1998 ].[ncbi.nlm.nih.gov]
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]
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]
Ectopia lentis was detected in 9 cases.[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]
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]
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]
These include: ectopia lentis (dislocation of the lens of the eye) dolichostenomelia (prominently long limbs) Individuals with LDS tend to have a more translucent quality[loeysdietzcanada.org]
Other Specified Congenital Malformations of the Eye
Prognosis - Blepharoptosis myopia ectopia lentis Not supplied. Treatment - Blepharoptosis myopia ectopia lentis Resources - Blepharoptosis myopia ectopia lentis[checkorphan.org]
Congenital Ectopia Lentis Usually bilateral and symmetrical Simple Ectopia Lentis Ectopia Lentis et Pupillae 6.[slideshare.net]
What is ectopia lentis syndrome?[marfan.org]