Isolated ectopia lentis
Dernière mise à jour 1 avr. 2026
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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.
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.
Inheritance patterns
The source lists the following possible inheritance patterns: Autosomal recessive; Autosomal dominant+Inherited or new variant. More than one pattern can apply in different cases.
Related genes
Other names
Congenital ectopia lentis
Ectopia lentis
Lens subluxation
Subluxation of lens
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Lectures complémentaires et références
- Isolated ectopia lentis; MedlinePlus, National Library of Medicine.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- Kaur K, Gurnani B. Ectopia Lentis. 2023 Jun 11. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2023 Jan-. Available from http://www.ncbi.nlm.nih.gov/books/NBK578193/
- 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, 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/
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