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Ectopia lentis 1, isolated, autosomal dominant(ECTOL1)

MedGen UID:
Concept ID:
Disease or Syndrome
Synonyms: ECTOL1; Ectopia Lentis, Isolated; Ectopia lentis, isolated, autosomal dominant
Gene (location): FBN1 (15q21.1)
Monarch Initiative: MONDO:0007514
OMIM®: 129600


Ectopia lentis is defined as an abnormal stretching of the zonular fibers that leads to lens dislocation, resulting in acute or chronic visual impairment (Greene et al., 2010). Citing the revised Ghent criteria for Marfan syndrome, Loeys et al. (2010) proposed the designation 'ectopia lentis syndrome' (ELS) for patients with ectopia lentis and a mutation in the FBN1 gene who lack aortic involvement, to highlight the systemic nature of the condition and to emphasize the need for assessment of features outside the ocular system (see DIAGNOSIS). Genetic Heterogeneity of Isolated Ectopia Lentis An autosomal recessive form of isolated ectopia lentis (ECTOL2; 225100) is caused by mutation in the ADAMTSL4 gene (610113). [from OMIM]

Additional description

From MedlinePlus Genetics
Ectopia lentis is classified as isolated when it occurs alone without signs and symptoms affecting other body systems. Ectopia lentis can also be classified as syndromic, when it is part of a syndrome that affects multiple parts of the body. Ectopia lentis is a common feature of genetic syndromes such as Marfan syndrome and Weill-Marchesani syndrome.

In individuals with isolated ectopia lentis, each eye can be affected differently. In addition, the eye problems vary among affected individuals, even those within the same family.

Vision problems are common in isolated ectopia lentis. Affected individuals often have nearsightedness (myopia) and can have an irregular curvature of the lens or a structure that covers the front of the eye (the cornea), which causes blurred vision (astigmatism). They may also develop clouding of the lenses (cataracts) or increased pressure in the eyes (glaucoma) at an earlier age than other adults. In a small number of people with isolated ectopia lentis, tearing of the back lining of the eye (retinal detachment) occurs, which can lead to further vision problems and possible blindness.

Isolated ectopia lentis is a condition that affects the eyes, specifically the positioning of the lens. The lens is a clear structure at the front of the eye that helps focus light. In people with isolated ectopia lentis, the lens in one or both eyes is not centrally positioned as it should be but is off-center (displaced). Isolated ectopia lentis usually becomes apparent in childhood. The lens may drift further off-center over time.  https://medlineplus.gov/genetics/condition/isolated-ectopia-lentis

Clinical features

From HPO
Ectopia lentis
MedGen UID:
Concept ID:
Congenital Abnormality
Dislocation or malposition of the crystalline lens of the eye. A partial displacement (or dislocation) of the lens is described as a subluxation of the lens, while a complete displacement is termed luxation of the lens. A complete displacement occurs if the lens is completely outside the patellar fossa of the lens, either in the anterior chamber, in the vitreous, or directly on the retina. If the lens is partially displaced but still contained within the lens space, then it is termed subluxation.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines


Robinson PN, Booms P, Katzke S, Ladewig M, Neumann L, Palz M, Pregla R, Tiecke F, Rosenberg T
Hum Mutat 2002 Sep;20(3):153-61. doi: 10.1002/humu.10113. PMID: 12203987

Recent clinical studies


Micheal S, Khan MI, Akhtar F, Weiss MM, Islam F, Ali M, Qamar R, Maugeri A, den Hollander AI
Mol Vis 2012;18:1918-26. Epub 2012 Jul 18 PMID: 22876116Free PMC Article
Robinson PN, Godfrey M
J Med Genet 2000 Jan;37(1):9-25. doi: 10.1136/jmg.37.1.9. PMID: 10633129Free PMC Article

Clinical prediction guides

Micheal S, Khan MI, Akhtar F, Weiss MM, Islam F, Ali M, Qamar R, Maugeri A, den Hollander AI
Mol Vis 2012;18:1918-26. Epub 2012 Jul 18 PMID: 22876116Free PMC Article
Yang G, Chu M, Zhai X, Zhao J
Mol Vis 2012;18:945-50. Epub 2012 Apr 13 PMID: 22539873Free PMC Article
Vanita V, Singh JR, Singh D, Varon R, Robinson PN, Sperling K
Mol Vis 2007 Oct 25;13:2035-40. PMID: 18079676

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