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Cataract 41(CTRCT41)

MedGen UID:
811742
Concept ID:
C3805412
Disease or Syndrome
Synonyms: CATARACT 41, CONGENITAL NUCLEAR TYPE; CTRCT41
 
Gene (location): WFS1 (4p16.1)
 
Monarch Initiative: MONDO:0007287
OMIM®: 116400

Definition

Cataract is an opacification of the lens or lens capsule in the eye and is the most common cause of childhood blindness in the world, with an incidence of 1 to 3 per 10,000 live births. If untreated in infancy or childhood, it frequently causes visual impairment and can result in irreversible amblyopia. Nuclear cataract refers to opacification within the embryonal and/or fetal nuclei of the lens (summary by Berry et al., 2013). [from OMIM]

Clinical features

From HPO
Nuclear cataract
MedGen UID:
140274
Concept ID:
C0392557
Finding
A nuclear cataract is an opacity or clouding that develops in the lens nucleus. That is, a nuclear cataract is one that is located in the center of the lens. The nucleus tends to darken changing from clear to yellow and sometimes brown.

Professional guidelines

PubMed

Çelik M, Akdeniz O, Ozbek MN, Kirbiyik O
J Trop Pediatr 2022 Oct 6;68(6) doi: 10.1093/tropej/fmac098. PMID: 36375035

Recent clinical studies

Etiology

Ferguson EL, Thoma M, Buto PT, Wang J, Glymour MM, Hoffmann TJ, Choquet H, Andrews SJ, Yaffe K, Casaletto K, Brenowitz WD
JAMA Netw Open 2024 Jul 1;7(7):e2424539. doi: 10.1001/jamanetworkopen.2024.24539. PMID: 39078629Free PMC Article
Lee CS, Gibbons LE, Lee AY, Yanagihara RT, Blazes MS, Lee ML, McCurry SM, Bowen JD, McCormick WC, Crane PK, Larson EB
JAMA Intern Med 2022 Feb 1;182(2):134-141. doi: 10.1001/jamainternmed.2021.6990. PMID: 34870676Free PMC Article
Hashemi H, Pakzad R, Yekta A, Aghamirsalim M, Pakbin M, Ramin S, Khabazkhoob M
Eye (Lond) 2020 Aug;34(8):1357-1370. Epub 2020 Feb 13 doi: 10.1038/s41433-020-0806-3. PMID: 32055021Free PMC Article
Kang J, Cabot F, Yoo SH
J Cataract Refract Surg 2015 Mar;41(3):670-3. Epub 2014 Dec 20 doi: 10.1016/j.jcrs.2014.11.035. PMID: 25535108
Storr-Paulsen A, Bernth-Petersen P
Curr Opin Ophthalmol 2001 Feb;12(1):41-46. doi: 10.1097/00055735-200102000-00008. PMID: 11150080

Diagnosis

Ferguson EL, Thoma M, Buto PT, Wang J, Glymour MM, Hoffmann TJ, Choquet H, Andrews SJ, Yaffe K, Casaletto K, Brenowitz WD
JAMA Netw Open 2024 Jul 1;7(7):e2424539. doi: 10.1001/jamanetworkopen.2024.24539. PMID: 39078629Free PMC Article
Lee CS, Gibbons LE, Lee AY, Yanagihara RT, Blazes MS, Lee ML, McCurry SM, Bowen JD, McCormick WC, Crane PK, Larson EB
JAMA Intern Med 2022 Feb 1;182(2):134-141. doi: 10.1001/jamainternmed.2021.6990. PMID: 34870676Free PMC Article
Bengarai W, Chokrani H, Berraho A
J Fr Ophtalmol 2018 May;41(5):470-471. Epub 2018 May 21 doi: 10.1016/j.jfo.2017.10.010. PMID: 29793789
El Moize Z, Lezrek O, Htiti N, El Harrak Y, Tachfouti S, Laghmari M, Cherkaoui O
J Fr Ophtalmol 2018 May;41(5):483-484. doi: 10.1016/j.jfo.2017.09.018. PMID: 29759651
Cohen MM Jr
Am J Med Genet 1991 Dec 15;41(4):488-99. doi: 10.1002/ajmg.1320410423. PMID: 1776643

Therapy

Lee CS, Gibbons LE, Lee AY, Yanagihara RT, Blazes MS, Lee ML, McCurry SM, Bowen JD, McCormick WC, Crane PK, Larson EB
JAMA Intern Med 2022 Feb 1;182(2):134-141. doi: 10.1001/jamainternmed.2021.6990. PMID: 34870676Free PMC Article
Gillespie LD, Robertson MC, Gillespie WJ, Sherrington C, Gates S, Clemson LM, Lamb SE
Cochrane Database Syst Rev 2012 Sep 12;2012(9):CD007146. doi: 10.1002/14651858.CD007146.pub3. PMID: 22972103Free PMC Article
Prescrire Int 2011 Feb;20(113):41-3. PMID: 21488590
Schmidbauer JM, Vargas LG, Peng Q, Escobar-Gomez M, Werner L, Arthur SN, Apple DJ
Int Ophthalmol Clin 2001 Summer;41(3):109-31. doi: 10.1097/00004397-200107000-00010. PMID: 11481543
Macky TA, Pandey SK, Werner L, Trivedi RH, Izak AM, Apple DJ
Int Ophthalmol Clin 2001 Summer;41(3):17-31. doi: 10.1097/00004397-200107000-00004. PMID: 11481537

Prognosis

Wang Q, Zhang S, Wang Y, Zhao D, Zhou C
JMIR Public Health Surveill 2022 Nov 14;8(11):e39314. doi: 10.2196/39314. PMID: 36374533Free PMC Article
Bullimore MA, Ritchey ER, Shah S, Leveziel N, Bourne RRA, Flitcroft DI
Ophthalmology 2021 Nov;128(11):1561-1579. Epub 2021 May 4 doi: 10.1016/j.ophtha.2021.04.032. PMID: 33961969
Habot-Wilner Z, Tiosano L, Sanchez JM, Shulman S, Barequet D, Rahat O, Amarilyo G, Amer R
Ocul Immunol Inflamm 2020;28(1):43-53. Epub 2018 Oct 17 doi: 10.1080/09273948.2018.1535079. PMID: 30332547
Kang J, Cabot F, Yoo SH
J Cataract Refract Surg 2015 Mar;41(3):670-3. Epub 2014 Dec 20 doi: 10.1016/j.jcrs.2014.11.035. PMID: 25535108
Nicholson AD, Menon S
J Postgrad Med 1995 Jan-Mar;41(1):22-3. PMID: 10740699

Clinical prediction guides

Vansenne F, Fock JM, Stolte-Dijkstra I, Meiners LC, van den Boogaard MH, Jaeger B, Boven L, Vos YJ, Sinke RJ, Verbeek DS
Eur J Paediatr Neurol 2022 Nov;41:91-98. Epub 2022 Nov 12 doi: 10.1016/j.ejpn.2022.11.003. PMID: 36410285
Wang Q, Zhang S, Wang Y, Zhao D, Zhou C
JMIR Public Health Surveill 2022 Nov 14;8(11):e39314. doi: 10.2196/39314. PMID: 36374533Free PMC Article
Mansour AM, Ahmed IIK, Charbaji AR, Mansour HA, El Jawhari KM
Eye (Lond) 2022 Jan;36(1):193-197. Epub 2021 Mar 5 doi: 10.1038/s41433-021-01482-5. PMID: 33674725Free PMC Article
Hashemi H, Pakzad R, Yekta A, Aghamirsalim M, Pakbin M, Ramin S, Khabazkhoob M
Eye (Lond) 2020 Aug;34(8):1357-1370. Epub 2020 Feb 13 doi: 10.1038/s41433-020-0806-3. PMID: 32055021Free PMC Article
Kleiman NJ
Ann ICRP 2012 Oct-Dec;41(3-4):80-97. Epub 2012 Aug 22 doi: 10.1016/j.icrp.2012.06.018. PMID: 23089007

Recent systematic reviews

Hira S, Klein Heffel K, Mehmood F, Sehgal K, Felix De Farias Santos AC, Steuernagel Del Valle G
J Cataract Refract Surg 2024 May 1;50(5):523-533. doi: 10.1097/j.jcrs.0000000000001405. PMID: 38288954
Matović K, Mekjavić PJ, Groznik AL, Fakin A, Petrovič MG, Pfeifer V, Valentinčič NV
Ophthalmic Surg Lasers Imaging Retina 2022 Dec;53(12):702-712. Epub 2022 Dec 1 doi: 10.3928/23258160-20221026-03. PMID: 36547956
Hashemi H, Pakzad R, Yekta A, Aghamirsalim M, Pakbin M, Ramin S, Khabazkhoob M
Eye (Lond) 2020 Aug;34(8):1357-1370. Epub 2020 Feb 13 doi: 10.1038/s41433-020-0806-3. PMID: 32055021Free PMC Article
Kessel L, Andresen J, Erngaard D, Flesner P, Tendal B, Hjortdal J
J Cataract Refract Surg 2015 Dec;41(12):2755-64. doi: 10.1016/j.jcrs.2015.11.010. PMID: 26796457
Gillespie LD, Robertson MC, Gillespie WJ, Sherrington C, Gates S, Clemson LM, Lamb SE
Cochrane Database Syst Rev 2012 Sep 12;2012(9):CD007146. doi: 10.1002/14651858.CD007146.pub3. PMID: 22972103Free PMC Article

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