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Congenital anomaly of lens

MedGen UID:
137917
Concept ID:
C0339350
Congenital Abnormality
Synonyms: Congenital lens anomaly; Congenital Lens Disorder; Congenital malformation of lens
SNOMED CT: Congenital anomaly of lens (128353007); Congenital lens anomaly (128353007); Congenital malformation of lens (128353007)

Definition

Any anatomic abnormality or physiologic dysfunction of the lens of the eye that is present at the time of birth. [from NCI]

Professional guidelines

PubMed

Yu X, Chen W, Xu W
J Cataract Refract Surg 2020 Dec;46(12):1674-1679. doi: 10.1097/j.jcrs.0000000000000334. PMID: 32694307
Lima Cunha D, Arno G, Corton M, Moosajee M
Genes (Basel) 2019 Dec 17;10(12) doi: 10.3390/genes10121050. PMID: 31861090Free PMC Article
Chandra A, Charteris D
Eye (Lond) 2014 Feb;28(2):162-8. Epub 2014 Jan 10 doi: 10.1038/eye.2013.274. PMID: 24406422Free PMC Article

Recent clinical studies

Etiology

Venkataraman P, Haripriya A, Mohan N, Rajendran A
Indian J Ophthalmol 2022 Jul;70(7):2262-2271. doi: 10.4103/ijo.IJO_2888_21. PMID: 35791105Free PMC Article
Milewicz DM, Braverman AC, De Backer J, Morris SA, Boileau C, Maumenee IH, Jondeau G, Evangelista A, Pyeritz RE
Nat Rev Dis Primers 2021 Sep 2;7(1):64. doi: 10.1038/s41572-021-00298-7. PMID: 34475413Free PMC Article
Lingam G, Sen AC, Lingam V, Bhende M, Padhi TR, Xinyi S
Eye (Lond) 2021 Aug;35(8):2086-2109. Epub 2021 Mar 21 doi: 10.1038/s41433-021-01501-5. PMID: 33746210Free PMC Article
Jivraj S, Stillwell S
Post Reprod Health 2021 Jun;27(2):98-108. Epub 2020 Sep 21 doi: 10.1177/2053369120958593. PMID: 32956009
de Oliveira Dias JR, Ventura CV, de Paula Freitas B, Prazeres J, Ventura LO, Bravo-Filho V, Aleman T, Ko AI, Zin A, Belfort R Jr, Maia M; Zika Virus Study Group
Prog Retin Eye Res 2018 Sep;66:85-106. Epub 2018 Apr 24 doi: 10.1016/j.preteyeres.2018.04.004. PMID: 29698814

Diagnosis

Yu X, Chen W, Xu W
J Cataract Refract Surg 2020 Dec;46(12):1674-1679. doi: 10.1097/j.jcrs.0000000000000334. PMID: 32694307
Chen C, Xiao H, Ding X
Asia Pac J Ophthalmol (Phila) 2019 Jan-Feb;8(1):86-95. Epub 2018 Oct 30 doi: 10.22608/APO.201854. PMID: 30375202
Demetrio R, Ruiz-Sancho D, Rolón N, del Campo A, Blanco C
Arch Soc Esp Oftalmol 2015 Mar;90(3):142-3. Epub 2014 Nov 15 doi: 10.1016/j.oftal.2014.02.012. PMID: 25443185
Bastola P
Kathmandu Univ Med J (KUMJ) 2010 Jul-Sep;8(31):348-51. doi: 10.3126/kumj.v8i3.6227. PMID: 22610743
Verma AS, Fitzpatrick DR
Orphanet J Rare Dis 2007 Nov 26;2:47. doi: 10.1186/1750-1172-2-47. PMID: 18039390Free PMC Article

Therapy

Venkataraman P, Haripriya A, Mohan N, Rajendran A
Indian J Ophthalmol 2022 Jul;70(7):2262-2271. doi: 10.4103/ijo.IJO_2888_21. PMID: 35791105Free PMC Article
Wang JF, Orlow SJ
Am J Clin Dermatol 2018 Oct;19(5):733-757. doi: 10.1007/s40257-018-0368-3. PMID: 30043128
Mas JL, Derumeaux G, Guillon B, Massardier E, Hosseini H, Mechtouff L, Arquizan C, Béjot Y, Vuillier F, Detante O, Guidoux C, Canaple S, Vaduva C, Dequatre-Ponchelle N, Sibon I, Garnier P, Ferrier A, Timsit S, Robinet-Borgomano E, Sablot D, Lacour JC, Zuber M, Favrole P, Pinel JF, Apoil M, Reiner P, Lefebvre C, Guérin P, Piot C, Rossi R, Dubois-Randé JL, Eicher JC, Meneveau N, Lusson JR, Bertrand B, Schleich JM, Godart F, Thambo JB, Leborgne L, Michel P, Pierard L, Turc G, Barthelet M, Charles-Nelson A, Weimar C, Moulin T, Juliard JM, Chatellier G; CLOSE Investigators
N Engl J Med 2017 Sep 14;377(11):1011-1021. doi: 10.1056/NEJMoa1705915. PMID: 28902593
Srinivasan S
J Cataract Refract Surg 2015 Nov;41(11):2345-6. doi: 10.1016/j.jcrs.2015.10.058. PMID: 26703480
Judge DP, Dietz HC
Lancet 2005 Dec 3;366(9501):1965-76. doi: 10.1016/S0140-6736(05)67789-6. PMID: 16325700Free PMC Article

Prognosis

Chavez E, Goncalves S, Rheault MN, Fornoni A
Adv Kidney Dis Health 2024 May;31(3):170-179. doi: 10.1053/j.akdh.2024.02.004. PMID: 39004457
Taylan Şekeroğlu H, Utine GE
Turk J Ophthalmol 2021 Apr 29;51(2):107-113. doi: 10.4274/tjo.galenos.2020.08377. PMID: 33951899Free PMC Article
Mas JL, Derumeaux G, Guillon B, Massardier E, Hosseini H, Mechtouff L, Arquizan C, Béjot Y, Vuillier F, Detante O, Guidoux C, Canaple S, Vaduva C, Dequatre-Ponchelle N, Sibon I, Garnier P, Ferrier A, Timsit S, Robinet-Borgomano E, Sablot D, Lacour JC, Zuber M, Favrole P, Pinel JF, Apoil M, Reiner P, Lefebvre C, Guérin P, Piot C, Rossi R, Dubois-Randé JL, Eicher JC, Meneveau N, Lusson JR, Bertrand B, Schleich JM, Godart F, Thambo JB, Leborgne L, Michel P, Pierard L, Turc G, Barthelet M, Charles-Nelson A, Weimar C, Moulin T, Juliard JM, Chatellier G; CLOSE Investigators
N Engl J Med 2017 Sep 14;377(11):1011-1021. doi: 10.1056/NEJMoa1705915. PMID: 28902593
Demetrio R, Ruiz-Sancho D, Rolón N, del Campo A, Blanco C
Arch Soc Esp Oftalmol 2015 Mar;90(3):142-3. Epub 2014 Nov 15 doi: 10.1016/j.oftal.2014.02.012. PMID: 25443185
Ramaesh K, Stokes J, Henry E, Dutton GN, Dhillon B
Surv Ophthalmol 2007 Jan-Feb;52(1):50-60. doi: 10.1016/j.survophthal.2006.10.004. PMID: 17212990

Clinical prediction guides

Yeung HH, Kumar-Singh R, Walton DS
J Pediatr Ophthalmol Strabismus 2022 Jul-Aug;59(4):236-242. Epub 2021 Dec 20 doi: 10.3928/01913913-20210929-02. PMID: 34928772
Taylan Şekeroğlu H, Utine GE
Turk J Ophthalmol 2021 Apr 29;51(2):107-113. doi: 10.4274/tjo.galenos.2020.08377. PMID: 33951899Free PMC Article
Ionescu C, Dascalescu D, Cristea M, Schmitzer S, Cioboata M, Iancu R, Corbu C
Rom J Ophthalmol 2016 Jan-Mar;60(1):37-9. PMID: 27220231Free PMC Article
Demetrio R, Ruiz-Sancho D, Rolón N, del Campo A, Blanco C
Arch Soc Esp Oftalmol 2015 Mar;90(3):142-3. Epub 2014 Nov 15 doi: 10.1016/j.oftal.2014.02.012. PMID: 25443185
Verma AS, Fitzpatrick DR
Orphanet J Rare Dis 2007 Nov 26;2:47. doi: 10.1186/1750-1172-2-47. PMID: 18039390Free PMC Article

Recent systematic reviews

Romano D, Bremond-Gignac D, Barbany M, Rahman A, Mauring L, Semeraro F, Cursiefen C, Lagali N, Romano V
Surv Ophthalmol 2023 Jul-Aug;68(4):794-808. Epub 2022 Nov 12 doi: 10.1016/j.survophthal.2022.11.001. PMID: 36379301
Huang S, Yang Y, Ouyang Z, Guo X, Zhan Z, Liu X, Chen Z, Xu J, Yu M
Eur J Dermatol 2022 Sep 1;32(5):589-596. doi: 10.1684/ejd.2022.4317. PMID: 36468718
Chen ZX, Jia WN, Sun Y, Chen TH, Zhao ZN, Lan LN, Liu Y, Song LH, Jiang YX
Hum Mutat 2022 Dec;43(12):2141-2152. Epub 2022 Oct 17 doi: 10.1002/humu.24483. PMID: 36208099
Wittich W, Granberg S, Wahlqvist M, Pichora-Fuller MK, Mäki-Torkko E
BMJ Open 2021 Jan 25;11(1):e044873. doi: 10.1136/bmjopen-2020-044873. PMID: 33495263Free PMC Article
Yu X, Chen W, Xu W
J Cataract Refract Surg 2020 Dec;46(12):1674-1679. doi: 10.1097/j.jcrs.0000000000000334. PMID: 32694307

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