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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

Gill ZS, Caldwell AS, Patnaik JL, Marin AI, Mudie LI, Grove N, Ifantides C, Ertel MK, Puente MA, Seibold LK
J Cataract Refract Surg 2023 Jun 1;49(6):595-601. doi: 10.1097/j.jcrs.0000000000001164. PMID: 36779806
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
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

Diagnosis

Feng J, Huang C, Liang L, Li C, Wang X, Ma J, Guan X, Jiang B, Huang S, Qin P
J Am Med Dir Assoc 2023 Sep;24(9):1363-1373.e6. Epub 2023 Jul 29 doi: 10.1016/j.jamda.2023.06.025. PMID: 37527793
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
Qin Y, Zhong X, Wen H, Zeng Q, Liao Y, Luo D, Liang M, Tang Y, Guo J, Cao H, Yang S, Tian X, Luo G, Li S
Ultraschall Med 2022 Dec;43(6):e125-e134. Epub 2021 Mar 16 doi: 10.1055/a-1320-0799. PMID: 33728625
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
Zhu X, Zhang S, Chang R, Lu Y
Clin Chim Acta 2017 Sep;472:41-45. Epub 2017 Jul 10 doi: 10.1016/j.cca.2017.07.010. PMID: 28705775

Therapy

Feng J, Huang C, Liang L, Li C, Wang X, Ma J, Guan X, Jiang B, Huang S, Qin P
J Am Med Dir Assoc 2023 Sep;24(9):1363-1373.e6. Epub 2023 Jul 29 doi: 10.1016/j.jamda.2023.06.025. PMID: 37527793
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
Srinivasan S
J Cataract Refract Surg 2015 Nov;41(11):2345-6. doi: 10.1016/j.jcrs.2015.10.058. PMID: 26703480
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
Gedde SJ, Schiffman JC, Feuer WJ, Herndon LW, Brandt JD, Budenz DL; Tube versus Trabeculectomy Study Group
Am J Ophthalmol 2012 May;153(5):789-803.e2. Epub 2012 Jan 15 doi: 10.1016/j.ajo.2011.10.026. PMID: 22245458Free PMC Article

Prognosis

Feng J, Huang C, Liang L, Li C, Wang X, Ma J, Guan X, Jiang B, Huang S, Qin P
J Am Med Dir Assoc 2023 Sep;24(9):1363-1373.e6. Epub 2023 Jul 29 doi: 10.1016/j.jamda.2023.06.025. PMID: 37527793
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
Arriola-Villalobos P, Moll-Udina A, Carrasco-López-Brea M, Sacristan C, Capella MJ, Peiteado D, Garrote-Llordén A, Albert Fort M, Jódar Márquez M, Jacobo Gonzalez Guijarro J, Demetrio-Pablo R, Luis Sánchez Sevilla J, Carreño E, González-López J, Miguel-Escuder L, Cuadros C, Díaz-Valle D, Adan A; Contributors: VKH Spanish Study Group, Benítez Del Castillo JM, Fonollosa A, Cordero M, Martínez Costa L, Blanco-Alonso R
Eur J Ophthalmol 2022 May;32(3):1547-1554. Epub 2021 Jul 16 doi: 10.1177/11206721211033477. PMID: 34269103
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
Sun W, Xu J, Gu Y, Du C
Int Ophthalmol 2021 Jan;41(1):375-387. Epub 2020 Sep 12 doi: 10.1007/s10792-020-01583-2. PMID: 32920712

Clinical prediction guides

Feng J, Huang C, Liang L, Li C, Wang X, Ma J, Guan X, Jiang B, Huang S, Qin P
J Am Med Dir Assoc 2023 Sep;24(9):1363-1373.e6. Epub 2023 Jul 29 doi: 10.1016/j.jamda.2023.06.025. PMID: 37527793
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

Feng J, Huang C, Liang L, Li C, Wang X, Ma J, Guan X, Jiang B, Huang S, Qin P
J Am Med Dir Assoc 2023 Sep;24(9):1363-1373.e6. Epub 2023 Jul 29 doi: 10.1016/j.jamda.2023.06.025. PMID: 37527793
Brízido M, Rodrigues PF, Almeida AC, Abegão Pinto L
Graefes Arch Clin Exp Ophthalmol 2023 May;261(5):1257-1266. Epub 2022 Nov 28 doi: 10.1007/s00417-022-05911-3. PMID: 36441227
Dahshan D, Kuzbel J, Verma V
Int Ophthalmol 2021 Dec;41(12):4209-4215. Epub 2021 Jul 26 doi: 10.1007/s10792-021-01986-9. PMID: 34312781
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
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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