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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

Tang HY, Rosén M, Granstam E
BMC Ophthalmol 2023 Jun 16;23(1):276. doi: 10.1186/s12886-023-03028-7. PMID: 37328798Free 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
Minkus CL, Pistilli M, Dreger KA, Fitzgerald TD, Payal AR, Begum H, Kaçmaz RO, Jabs DA, Nussenblatt RB, Rosenbaum JT, Levy-Clarke GA, Sen HN, Suhler EB, Thorne JE, Bhatt NP, Foster CS, Buchanich JM, Kempen JH; Systemic Immunosuppressive Therapy for Eye Diseases (SITE) Cohort Study Research Group
Am J Ophthalmol 2021 Sep;229:200-209. Epub 2021 Mar 10 doi: 10.1016/j.ajo.2021.02.032. PMID: 33713679Free 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

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
Scheuerle AE
Am J Med Genet A 2019 Aug;179(8):1415-1419. Epub 2019 May 22 doi: 10.1002/ajmg.a.61205. PMID: 31119873
Bullimore MA, Slade S, Yoo P, Otani T
Eye Contact Lens 2019 Mar;45(2):117-123. doi: 10.1097/ICL.0000000000000552. PMID: 30325761
Kohnen T
J Cataract Refract Surg 2015 Mar;41(3):485-6. doi: 10.1016/j.jcrs.2015.02.003. PMID: 25804576
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

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
Bu JJ, Chung J, Afshari NA
Curr Opin Ophthalmol 2022 Jan 1;33(1):41-46. doi: 10.1097/ICU.0000000000000821. PMID: 34854827
Srinivasan S
J Cataract Refract Surg 2015 Nov;41(11):2345-6. doi: 10.1016/j.jcrs.2015.10.058. PMID: 26703480
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
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

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
Minkus CL, Pistilli M, Dreger KA, Fitzgerald TD, Payal AR, Begum H, Kaçmaz RO, Jabs DA, Nussenblatt RB, Rosenbaum JT, Levy-Clarke GA, Sen HN, Suhler EB, Thorne JE, Bhatt NP, Foster CS, Buchanich JM, Kempen JH; Systemic Immunosuppressive Therapy for Eye Diseases (SITE) Cohort Study Research Group
Am J Ophthalmol 2021 Sep;229:200-209. Epub 2021 Mar 10 doi: 10.1016/j.ajo.2021.02.032. PMID: 33713679Free PMC Article
Vasavada AR, Trivedi RH
J Cataract Refract Surg 1999 Nov;25(11):1527-31. doi: 10.1016/s0886-3350(99)00197-2. PMID: 10569170
Nicholson AD, Menon S
J Postgrad Med 1995 Jan-Mar;41(1):22-3. PMID: 10740699

Clinical prediction guides

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
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
Khandekar R, Sudhan A, Jain BK, Deshpande M, Dole K, Shah M, Shah S
Middle East Afr J Ophthalmol 2015 Jan-Mar;22(1):80-5. doi: 10.4103/0974-9233.148354. PMID: 25624679Free 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

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
Muqit MM, Mehat M, Bunce C, Bainbridge JW
Cochrane Database Syst Rev 2022 Nov 18;11(11):CD013760. doi: 10.1002/14651858.CD013760.pub2. PMID: 36398614Free PMC Article
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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