Ectopia Lentis

Kirandeep Kaur, Bharat Gurnani, Kirandeep Kaur, Bharat Gurnani

Excerpt

Ectopia lentis refers to the hereditary or acquired malposition of the natural crystalline lens out of the patellar fossa. The first report came from Berry, who documented the first case of lenticular dislocation in 1749. Later, Stellwag was the first to name it ectopia lentis in 1856 in a patient with congenital dislocation of the lens. It can be hereditary (familial) or acquired. The lens can be subluxated or dislocated away from the patellar fossa. The cause can be traumatic or secondary to underlying systemic disease. The lens can be seen in the anterior chamber, vitreous phase, or retinal surface. Ectopia lentis can be a primary manifestation of a systemic disorder and should arouse suspicion of underlying systemic pathology. This is a disorder with varied etiologies.

A detailed past and systemic history are necessary in each case. The patient should be questioned regarding cardiovascular, skeletal, and any other ocular abnormalities. A thorough ocular and systemic examination help in clinching the diagnosis. Family members should also be evaluated to pinpoint the genetic association. The pediatrician also plays a crucial role in ruling out familial disorders. The patient's visual outcome depends on the degree and extent of subluxation or dislocation and the presence and absence of complications.

Copyright © 2023, StatPearls Publishing LLC.

References

    1. Sadiq MA, Vanderveen D. Genetics of ectopia lentis. Semin Ophthalmol. 2013 Sep-Nov;28(5-6):313-20.
    1. Chandra A, Charteris D. Molecular pathogenesis and management strategies of ectopia lentis. Eye (Lond) 2014 Feb;28(2):162-8.
    1. Hsu HY, Edelstein SL, Lind JT. Surgical management of non-traumatic pediatric ectopia lentis: A case series and review of the literature. Saudi J Ophthalmol. 2012 Jul;26(3):315-21.
    1. Goldberg MF. Clinical manifestations of ectopia lentis et pupillae in 16 patients. Ophthalmology. 1988 Aug;95(8):1080-7.
    1. Jin GM, Fan M, Cao QZ, Lin JX, Zhang YC, Lin JQ, Wang YY, Young CA, Zheng DY. Trends and characteristics of congenital ectopia lentis in China. Int J Ophthalmol. 2018;11(9):1545-1549.
    1. Masoud MT, Huda SN, Saboor T. Ectopia lentis caused by blunt eye trauma. Br J Hosp Med (Lond) 2007 Mar;68(3):161.
    1. 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.
    1. Nelson LB, Maumenee IH. Ectopia lentis. Surv Ophthalmol. 1982 Nov-Dec;27(3):143-60.
    1. Safi M, Nejad SK, O'Hara M, Shankar SP. Ectopia Lentis et Pupillae Caused by ADAMTSL4 Pathogenic Variants and an Algorithm for Work-up. J Pediatr Ophthalmol Strabismus. 2019 Jul 05;56:e45-e48.
    1. Judge DP, Dietz HC. Marfan's syndrome. Lancet. 2005 Dec 03;366(9501):1965-76.
    1. Rodrigo BJ, Paulina LL, Francesc Mde R, Eduardo TT, Alejandro N. Intraocular lens subluxation in marfan syndrome. Open Ophthalmol J. 2014;8:48-50.
    1. Brown OR, DeMots H, Kloster FE, Roberts A, Menashe VD, Beals RK. Aortic root dilatation and mitral valve prolapse in Marfan's syndrome: an ECHOCARDIOgraphic study. Circulation. 1975 Oct;52(4):651-7.
    1. Salik I, Rawla P. StatPearls [Internet] StatPearls Publishing; Treasure Island (FL): 2023. Jan 23, Marfan Syndrome.
    1. Yang GY, Huang X, Chen BJ, Xu ZP. Weill-Marchesani-like syndrome caused by an FBN1 mutation with low-penetrance. Chin Med J (Engl) 2021 Mar 23;134(11):1359-1361.
    1. Neely DE, Plager DA. Management of ectopia lentis in children. Ophthalmol Clin North Am. 2001 Sep;14(3):493-9.
    1. Wasim M, Khan HN, Ayesha H, Iqbal M, Tawab A, Irfan M, Kanhai W, Goorden SMI, Stroomer L, Salomons G, Vaz FM, Karnebeek CDMV, Awan FR. Identification of three novel pathogenic mutations in cystathionine beta-synthase gene of Pakistani intellectually disabled patients. J Pediatr Endocrinol Metab. 2022 Mar 28;35(3):325-332.
    1. Sakai LY, Keene DR, Renard M, De Backer J. FBN1: The disease-causing gene for Marfan syndrome and other genetic disorders. Gene. 2016 Oct 10;591(1):279-291.
    1. Jones W, Rodriguez J, Bassnett S. Targeted deletion of fibrillin-1 in the mouse eye results in ectopia lentis and other ocular phenotypes associated with Marfan syndrome. Dis Model Mech. 2019 Jan 25;12(1)
    1. Ahram D, Sato TS, Kohilan A, Tayeh M, Chen S, Leal S, Al-Salem M, El-Shanti H. A homozygous mutation in ADAMTSL4 causes autosomal-recessive isolated ectopia lentis. Am J Hum Genet. 2009 Feb;84(2):274-8.
    1. Chen T, Chen J, Jin G, Zhang M, Chen Z, Zheng D, Jiang Y. Clinical Ocular Diagnostic Model of Marfan Syndrome in Patients With Congenital Ectopia Lentis by Pentacam AXL System. Transl Vis Sci Technol. 2021 Jun 01;10(7):3.
    1. Wilczyński TK, Niewiem A, Leszczyński R, Michalska-Małecka K. Recurrent Intraocular Lens Dislocation in a Patient with Familial Ectopia Lentis. Int J Environ Res Public Health. 2021 Apr 25;18(9)
    1. Rezar-Dreindl S, Stifter E, Neumayer T, Papp A, Gschliesser A, Schmidt-Erfurth U. Visual outcome and surgical results in children with Marfan syndrome. Clin Exp Ophthalmol. 2019 Dec;47(9):1138-1145.
    1. Lian Z, Cao Q, Qi H, Young CA, Zhang X, Jin G, Zheng D. Accuracy of intraocular lens power formulas for eyes with scleral-sutured intraocular lenses in congenital ectopia lentis. J Cataract Refract Surg. 2022 Apr 01;48(4):469-474.
    1. Gehle P, Goergen B, Pilger D, Ruokonen P, Robinson PN, Salchow DJ. Biometric and structural ocular manifestations of Marfan syndrome. PLoS One. 2017;12(9):e0183370.
    1. Nistri S, De Cario R, Sticchi E, Spaziani G, Della Monica M, Giglio S, Favilli S, Giusti B, Stefano P, Pepe G. Differential Diagnosis between Marfan Syndrome and Loeys-Dietz Syndrome Type 4: A Novel Chromosomal Deletion Covering TGFB2. Genes (Basel) 2021 Sep 22;12(10)
    1. De Backer J. Cardiovascular characteristics in Marfan syndrome and their relation to the genotype. Verh K Acad Geneeskd Belg. 2009;71(6):335-71.
    1. Mansour AM, Younis MH, Dakroub RH. Anterior segment imaging and treatment of a case with syndrome of ectopia lentis, spontaneous filtering blebs, and craniofacial dysmorphism. Case Rep Ophthalmol. 2013 Jan;4(1):84-90.
    1. Jin C, Wang Q, Li J, Zhu Y, Shentu X, Yao K. A recurrent PAX6 mutation is associated with aniridia and congenital progressive cataract in a Chinese family. Mol Vis. 2012;18:465-70.
    1. Avalos-Lara SJ, Antonio-Aguirre B, Perez-Ortiz AC, Mendoza Velásquez C, Camacho-Ordoñez A, Palacio Pastrana C. Spherophakia and Ectopia Lentis in a Sturge-Weber Patient: A Case Report. Case Rep Ophthalmol. 2020 May-Aug;11(2):356-363.
    1. Lalramhluni R, Rath S, Shrivastav A, Singh PK, Mayor R, Singh S. Refractive and Visual Outcomes after Scleral Fixated Intraocular Lens Implantation in Children with Ectopia Lentis. Nepal J Ophthalmol. 2020 Jan;12(23):75-82.
    1. Şimşek T, Beyazyıldız E, Şimşek E, Öztürk F. Isolated Microspherophakia Presenting with Angle-Closure Glaucoma. Turk J Ophthalmol. 2016 Oct;46(5):237-240.
    1. Erdogan G, Kandemir Besek N, Onal Gunay B, Agca A. Outcomes of three surgical approaches for managing ectopia lentis in Marfan syndrome. Eur J Ophthalmol. 2022 Jan;32(1):242-248.
    1. Kazemi S, Wirostko WJ, Sinha S, Mieler WF, Koenig SB, Sheth BP. Combined pars plana lensectomy-vitrectomy with open-loop flexible anterior chamber intraocular lens (AC IOL) implantation for subluxated lenses. Trans Am Ophthalmol Soc. 2000;98:247-51; discussion 251-3.
    1. Gurnani B, Kaur K, Sekaran S. First case of coloboma, lens neovascularization, traumatic cataract, and retinal detachment in a young Asian female. Clin Case Rep. 2021 Sep;9(9):e04743.
    1. Gurnani B, Kaur K, Gireesh P. A rare presentation of anterior dislocation of calcified capsular bag in a spontaneously absorbed cataractous eye. Oman J Ophthalmol. 2021 May-Aug;14(2):120-121.
    1. Gurnani B, Kaur K. Rare traumatic anterior dislocation of capsular tension ring-intraocular lens complex in-toto. Indian J Ophthalmol. 2020 Nov;68(11):2529.
    1. Chen J, Tang Y, Jing Q, Lu Y, Jiang Y. Analysis of Corneal Spherical Aberrations in Chinese Bilateral Ectopia Lentis Patients. Front Med (Lausanne) 2021;8:736686.
    1. Puthalath AS, Gupta N, Samanta R, Verma PK. Congenital aniridia with ectopia lentis and unilateral buphthalmos: an unusual presentation. BMJ Case Rep. 2021 Aug 17;14(8)
    1. Muthukumar B, Chhablani PP, Salman A, Bhandari V, Kapoor R. Comparison of retropupillary fixated iris claw lens versus sclera fixated lens for correction of pediatric aphakia secondary to ectopia lentis. Oman J Ophthalmol. 2021 Jan-Apr;14(1):20-26.
    1. Esfandiari H, Ansari S, Mohammad-Rabei H, Mets MB. Management Strategies of Ocular Abnormalities in Patients with Marfan Syndrome: Current Perspective. J Ophthalmic Vis Res. 2019 Jan-Mar;14(1):71-77.
    1. Hoffman RS, Snyder ME, Devgan U, Allen QB, Yeoh R, Braga-Mele R, ASCRS Cataract Clinical Committee. Challenging/Complicated Cataract Surgery Subcommittee Management of the subluxated crystalline lens. J Cataract Refract Surg. 2013 Dec;39(12):1904-15.
    1. Wu-Chen WY, Letson RD, Summers CG. Functional and structural outcomes following lensectomy for ectopia lentis. J AAPOS. 2005 Aug;9(4):353-7.
    1. Duan Y, Li P, Ding T, Wang Y, Liao Y, Du Z, Ling J, Liu S, Li W, Liu Z. Combining clinical examination with exome sequencing for the diagnosis and treatment of Marfan syndrome: a case series of 6 families from China. Ann Palliat Med. 2021 Sep;10(9):9953-9962.
    1. Chee SP, Ti SE, Chan NS. Management of the subluxated crystalline lens: A review. Clin Exp Ophthalmol. 2021 Dec;49(9):1091-1101.

Source: PubMed

3
Sottoscrivi