Abstract
Ectopia lentis (EL) is the dislocation of the lens from its normal position, which is maintained by the zonular filaments. Lens subluxation refers to a partial displacement of the lens. Lens displacement can be associated with various complications such as refractive error, diplopia, cataract, leakage of lens proteins into the vitreous with consequent inflammation of the vitreous, and chorioretinitis. Displacement into the anterior chamber may result in papillary block and glaucoma. EL can arise due to hereditary factors or may be secondary to various conditions including trauma, large eyeball, cataracts, pseudoexfoliation, etc. Hereditary EL can be isolated or associated with systemic manifestations. It is most commonly found in Marfan syndrome and also in syndromes such as Weill-Marchesani and Ehlers-Danlos and some metabolic disorders.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
References
Ahram D, Sato TS, Kohilan A, Tayeh M, Chen S, Leal S, et al. A homozygous mutation in ADAMTSL4 causes autosomal-recessive isolated ectopia lentis. Am J Hum Genet. 2009;84:274–8.
Apte SS. A disintegrin-like and metalloprotease (reprolysin-type) with thrombospondin type 1 motif (ADAMTS) superfamily: functions and mechanisms. J Biol Chem. 2009;284:31493–7.
Chandra A, Patel D, Aragon-Martin JA, Pinard A, Collod-Béroud G, Comeglio P, et al. The revised Ghent nosology; reclassifying isolated ectopia lentis. Clin Genet. 2015;87:284–7.
Davis EC, Roth RA, Heuser JE, Mecham RP. Ultrastructural properties of ciliary zonule microfibrils. J Struct Biol. 2002;139:65–75.
Loeys BL, Dietz HC, Braverman AC, Callewaert BL, De Backer J, Devereux RB, et al. The revised Ghent nosology for the Marfan syndrome. J Med Genet. 2010;47(7):476–85. https://doi.org/10.1136/jmg.2009.072785.
Lönnqvist L, Child A, Kainulainen K, Davidson R, Puhakka L, Peltonen L. A novel mutation of the fibrillin gene causing ectopia lentis. Genomics. 1994;19:573–6.
Robinson PN, Arteaga-Solis E, Baldock C, Collod-Béroud G, Booms P, De Paepe A, et al. The molecular genetics of Marfan syndrome and related disorders. J Med Genet. 2006;43:769–87.
Sadiq MA, Vandeveen D. Genetics of ectopia lentis. Semin Ophthalmol. 2013;28:313–20.
Vanita V, Singh JR, Singh D, Varon R, Robinson PN, Sperling K. A recurrent FBN1 mutation in an autosomal dominant ectopia lentis family of Indian origin. Mol Vis. 2007;13:2035–40.
Author information
Authors and Affiliations
Rights and permissions
Copyright information
© 2019 Springer Nature Singapore Pte Ltd.
About this chapter
Cite this chapter
Kannabiran, C. (2019). Genetics of Ectopia Lentis. In: Genetics of Eye Diseases. Springer, Singapore. https://doi.org/10.1007/978-981-13-7146-2_3
Download citation
DOI: https://doi.org/10.1007/978-981-13-7146-2_3
Published:
Publisher Name: Springer, Singapore
Print ISBN: 978-981-13-7145-5
Online ISBN: 978-981-13-7146-2
eBook Packages: MedicineMedicine (R0)