However, a few families with dislocated lenses have been reported in which no evidence of defective collagen is present. The lens is most commonly displaced temporally, often creating myopic astigmatism. [disorders.eyes.arizona.edu]

Ectopia lentis is a highly heterogeneous entity presenting as subluxation of the lens due to disruption in the zonular fibers. [ashg.org]

DISCUSSION This case demonstrates the uncommon presentation of narrow angles in a highly myopic young patient. [glaucomatoday.com]

EL, the only ocular manifestation considered a major diagnostic criterion, is present in 60% of patients with MFS. [molvis.org]

• Disability

  […] in affected males Mild intellectual disability in affected females Males may have a characteristic appearance Large head Long face Prominent forehead and chin Protruding ears Joint laxity - suggest the Marfan syndrome phenotype Large testes (postpubertally [medicinman.cz]

  WAGR Syndrome May 15, 2018 by Peter Ciszewski WAGR syndrome is a rare genetic syndrome in which there is a predisposition to several conditions, including certain malignancies, distinctive eye abnormalities, and/or intellectual disability. [checkrare.com]

  Most common symptoms of CHROMOSOME 1q21.1 DUPLICATION SYNDROME Autosomal dominant inheritance Intellectual disability Seizures Global developmental delay Short stature More info about CHROMOSOME 1q21.1 DUPLICATION SYNDROME SOURCES: MESH MONDO UMLS ORPHANET [mendelian.co]

  […] that many of the genes implicated i 51 ons were among the most consistent features ( ectopia lentis in 86%, myopia in 80%). 52 nterior segment dysgenesis, Marfan syndrome, ectopia lentis, neurofibromatosis, retinal hemangioblast 53 etardation and other disabilities [lsd.bioscinet.org]

  It is associated with intellectual disability, osteoporosis, chest deformities, and increased risk of thrombotic episodes. [eyewiki.aao.org]

• Ectopia Lentis

  […] known as ectopia lentis, isolated autosomal recessive, is related to isolated ectopia lentis. [malacards.org]

  The Revised Ghent Nosology; Reclassifying Isolated Ectopia Lentis. Clin Genet. 2014 Feb 7. [Epub ahead of print]. [disorders.eyes.arizona.edu]

  ADAMTSL4 Specificity 100 % Genes 100 % Familial ectopia lentis (sequence analysis of ADAMTSL4 gene). By CGC Genetics in Portugal. ADAMTSL4 Specificity 100 % Genes 100 % Familial ectopia lentis (sequence analysis of ADAMTSL4 gene). [mendelian.co]

• Iridodonesis

  Ocular manifestations include: Ectopia lentis High myopia/astigmatism Increased axial length Iridodonesis/phacodonesis Iris transillumination defects Small, poorly dilating pupils Decreased corneal curvature Scleral thinning Retinal detachments Figure [eyewiki.org]

  In younger children less cooperative with a slit lamp examination, examination with a penlight may demonstrate tremulousness of the iris (iridodonesis) [14] Grading systems for ectopia lentis have been proposed to facilitate and standardize studies, as [eyewiki.aao.org]

  The phenotype of both families was characterized by the presence of bilateral ectopia lentis and iridodonesis in all affected members without any skeletal or aortic manifestations characteristic of the Marfan syndrome. [nejm.org]

Metabolic workups revealed normal bicarbonate and ammonia levels, and a normal level of plasma uric acid 5.6 mg/dl (normal reference 2.4-7.2). [ojrd.biomedcentral.com]

Clinical Relevance: Identification of genetic loci and genes involved in ectopia lentis will enhance our understanding of the disease at a molecular level, leading to better genetic counseling and family screening and possible future development of better treatment [jhu.pure.elsevier.com]

Treatment Treatment Options: Lens removal may be indicated when vision cannot otherwise be corrected. References References Chandra A, Aragon-Martin JA, Sharif S, Parulekar M, Child A, Arno G. [disorders.eyes.arizona.edu]

That Kid's Bag: Treatment of Subluxated Crystalline Lens This award-winning video by Mauricio A. [eyewiki.aao.org]

Prognosis An individual’s prognosis depends on any underlying ocular or systemic disease, the degree of subluxation, and the management strategy pursued. [eyewiki.aao.org]

[…] subluxation, indications for lens extraction as delineated by Nemet et al [6] include: Lens edge bisecting the pupil with impossible optical correction Lens dislocation into the vitreous cavity Anterior displacement with secondary glaucoma Cataract formation Prognosis [eyewiki.org]

Thus, these two proteins might be the important molecular biomarkers for predicting NPC metastasis and prognosis. [oncotarget.com]

The prognosis of hyperlysinemia: an interim report. Am J Hum Genet. 1983;35:438–42. PubMed PubMedCentral Google Scholar 66. Shawaf S, Noureddin B, Khouri A, Traboulsi EI. [link.springer.com]

As ectopia lentis may be the first sign of a more serious systemic disease, it is important to determine the etiology for appropriate patient management. [eyewiki.aao.org]

Lyons, both globally recognized leaders, provide authoritative coverage of all the pediatric ophthalmic conditions you’re likely to encounter in practice, including the latest clinical advances in etiology, diagnosis, and medical and surgical management [books.google.de]

Reported cases in the literature of angle closure in the setting of high myopia (excluding those due to inflammation or contracting membranes) include a number of possible etiologies such as primary pupillary block, plateau iris, malignant glaucoma after [glaucomatoday.com]

[…] not of a reflected but of an intrinsic lustre, as does a candle or the sun.” [2] Though not credited with the condition’s namesake, the ophthalmologist Whilliams gave a complete description of the syndrome 20 years before Antoine Marfan in 1876. [3] Epidemiology [eyewiki.org]

Although no clear epidemiological data is available, it has been suggested that congenital EL may have a prevalence of six per 100 000. 22 It is probable that the second most common cause of EL is a condition termed isolated ectopia lentis (IEL). 22, [nature.com]

De novo mutations in the FBN1 gene account for about 25-30% of diagnoses. [5] [6] Pathophysiology The cytogenic location of FBN1 is 15q21.1, which is the long arm of chromosome 15 (Fig 1). [eyewiki.org]

Pseudoxanthoma elasticum: a clinical, pathophysiological and genetic update including 11 novel ABCC6 mutations. J Med Genet 2005; 42:881–892. CrossRef PubMed CAS Google Scholar Le Boulanger G, Labreze C, Croue A et al. G. [link.springer.com]

Similar to isolated ectopia lentis, the ADAMTSL4 gene mutations that cause ectopia lentis et pupillae lead to decreased production of microfibrils or the formation of impaired microfibrils, which prevents the proper anchoring of certain structures in [ghr.nlm.nih.gov]

In order to prevent complications secondary to aortic root dilation, B-blockers are most often employed for both children and adults, unless there is a specific contraindication. [eyewiki.org]

In all cases, timely optical correction is important for prevention of amblyopia. [eyewiki.aao.org]

Congenital EL remains stable from early childhood and is strongly associated with FBN1 mutations, which strongly supports the MFS diagnosis and can be used to provide preventive treatment for atypical and childhood patients with MFS. [molvis.org]

Losartan, an AT1 antagonist, prevents aortic aneurysm in a mouse model of Marfan syndrome. Science. 2006;312:117–21. CrossRef PubMed PubMedCentral Google Scholar 35. Matt P, Habashi J, Carrel T, Cameron DE, Van Eyk JE, Dietz HC. [link.springer.com]