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URL of this page: https://medlineplus.gov/genetics/condition/isolated-ectopia-lentis/

Isolated ectopia lentis

Description

Isolated ectopia lentis is a condition that affects the positioning of the lens in the eyes. 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 out of place (ectopic) instead of centrally positioned. Isolated ectopia lentis is often present at birth but may become apparent during childhood. The lens may drift further out of place over time.

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

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.

Ectopia lentis is classified as isolated when it occurs without signs and symptoms that affect 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.

Ectopia lentis can also occur in individuals who experience injury or trauma to the head or eye. Traumatic ectopia lentis is not genetic, can occur at any age, and is the most common cause of ectopia lentis.

Frequency

The prevalence of isolated ectopia lentis is unknown. The prevalence of ectopia lentis due to genetic causes, both isolated and syndromic, is estimated to be 6 in 100,000 individuals.

Causes

Changes in the FBN1 or ADAMTSL4 gene cause isolated ectopia lentis. Genetic changes that cause disease are called pathogenic variants. Pathogenic variants in the FBN1 gene are more common among people with isolated ectopia lentis than variants in the ADAMTSL4 gene. These genes provide instructions for making proteins that are necessary for the formation of threadlike filaments called microfibrils. Microfibrils provide support to many tissues. Within the eyes, microfibrils form small bundles called zonular fibers that hold the lenses of the eyes in their central position.

Pathogenic variants in the FBN1 or ADAMTSL4 gene cause cells to make a version of the protein that does not function properly. This can decrease the number of microfibrils or result in the formation of altered microfibrils. Without enough functional microfibrils to form zonular fibers, the lens becomes ectopic. The ectopic lens cannot focus light correctly, contributing to the vision problems that are common in people with isolated ectopia lentis.

Learn more about the genes associated with Isolated ectopia lentis

Inheritance

When isolated ectopia lentis is caused by pathogenic variants in the FBN1 gene, it is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the variant from one affected parent. Other cases result from a new (de novo) variant in the gene that occurs during the formation of reproductive cells (eggs or sperm) in an affected individual's parent or during early embryonic development. These affected individuals typically have no history of the disorder in their family.

When isolated ectopia lentis is caused by mutations in the ADAMTSL4 gene, it is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell must have a variant to cause the disorder. The parents of an individual with an autosomal recessive condition each carry one copy of the altered gene, but they typically do not show signs and symptoms of the condition.

Other Names for This Condition

  • Congenital ectopia lentis
  • Ectopia lentis
  • Lens subluxation
  • Subluxation of lens

Additional Information & Resources

Genetic Testing Information

Genetic and Rare Diseases Information Center

Patient Support and Advocacy Resources

Catalog of Genes and Diseases from OMIM

Scientific Articles on PubMed

References

  • Chandra A, Aragon-Martin JA, Hughes K, Gati S, Reddy MA, Deshpande C, Cormack G, Child AH, Charteris DG, Arno G. A genotype-phenotype comparison of ADAMTSL4 and FBN1 in isolated ectopia lentis. Invest Ophthalmol Vis Sci. 2012 Jul 24;53(8):4889-96. doi: 10.1167/iovs.12-9874. Citation on PubMed
  • Chandra A, Patel D, Aragon-Martin JA, Pinard A, Collod-Beroud G, Comeglio P, Boileau C, Faivre L, Charteris D, Child AH, Arno G. The revised ghent nosology; reclassifying isolated ectopia lentis. Clin Genet. 2015 Mar;87(3):284-7. doi: 10.1111/cge.12358. Epub 2014 Mar 6. Citation on PubMed
  • Chen TH, Chen ZX, Zhang M, Chen JH, Deng M, Zheng JL, Lan LN, Jiang YX. Combination of Panel-based Next-Generation Sequencing and Clinical Findings in Congenital Ectopia Lentis Diagnosed in Chinese Patients. Am J Ophthalmol. 2022 May;237:278-289. doi: 10.1016/j.ajo.2021.11.014. Epub 2021 Nov 21. Citation on PubMed
  • Faivre L, Collod-Beroud G, Callewaert B, Child A, Loeys BL, Binquet C, Gautier E, Arbustini E, Mayer K, Arslan-Kirchner M, Kiotsekoglou A, Comeglio P, Grasso M, Beroud C, Bonithon-Kopp C, Claustres M, Stheneur C, Bouchot O, Wolf JE, Robinson PN, Ades L, De Backer J, Coucke P, Francke U, De Paepe A, Boileau C, Jondeau G. Pathogenic FBN1 mutations in 146 adults not meeting clinical diagnostic criteria for Marfan syndrome: further delineation of type 1 fibrillinopathies and focus on patients with an isolated major criterion. Am J Med Genet A. 2009 May;149A(5):854-60. doi: 10.1002/ajmg.a.32809. Citation on PubMed
  • Fuchs J, Rosenberg T. Congenital ectopia lentis. A Danish national survey. Acta Ophthalmol Scand. 1998 Feb;76(1):20-6. doi: 10.1034/j.1600-0420.1998.760105.x. Citation on PubMed
  • Guo D, Jin G, Zhou Y, Zhang X, Cao Q, Lian Z, Guo Y, Zheng D. Mutation spectrum and genotype-phenotype correlations in Chinese congenital ectopia lentis patients. Exp Eye Res. 2021 Jun;207:108570. doi: 10.1016/j.exer.2021.108570. Epub 2021 Apr 16. Citation on PubMed
  • Kaur K, Gurnani B. Ectopia Lentis. 2023 Jun 11. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2026 Jan-. Available from http://www.ncbi.nlm.nih.gov/books/NBK578193/ Citation on PubMed
  • Rodahl E, Mellgren AEC, Boonstra NE, Knappskog PM. ADAMTSL4-Related Eye Disorders. 2012 Feb 16 [updated 2020 Jul 9]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK84111/ Citation on PubMed

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