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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.
See: Feature record | Search on this feature

Professional guidelines

PubMed

Neonatal classic galactosemia-diagnosis, clinical profile and molecular characteristics in unscreened Turkish population.
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

Association Between Cataract Extraction and Development of Dementia.
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
Associations in corticocapsular adhesions.
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
Cataract surgery in retinitis pigmentosa.
Chatterjee S, Agrawal D, Agrawal D, Parchand SM, Sahu A
Indian J Ophthalmol 2021 Jul;69(7):1753-1757. doi: 10.4103/ijo.IJO_2916_20. PMID: 34146021Free PMC Article
Global and regional prevalence of age-related cataract: a comprehensive systematic review and meta-analysis.
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
Radiation cataract.
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

Association Between Cataract Extraction and Development of Dementia.
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
Vogt-Koyanagi-Harada disease in Spain.
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
Associations in corticocapsular adhesions.
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
New cataract markers: Mechanisms of disease.
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
Radiation cataract.
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

Association Between Cataract Extraction and Development of Dementia.
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
Small eyes-big problems.
Srinivasan S
J Cataract Refract Surg 2015 Nov;41(11):2345-6. doi: 10.1016/j.jcrs.2015.10.058. PMID: 26703480
Radiation cataract.
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
Interventions for preventing falls in older people living in the community.
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
Treatment outcomes in the Tube Versus Trabeculectomy (TVT) study after five years of follow-up.
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

The Association Between Eye Disease and Incidence of Dementia: Systematic Review and Meta-Analysis.
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
Dual Sensory Impairment as a Predictor of Loneliness and Isolation in Older Adults: National Cohort Study.
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
Vogt-Koyanagi-Harada disease in Spain.
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
Cataract surgery in retinitis pigmentosa.
Chatterjee S, Agrawal D, Agrawal D, Parchand SM, Sahu A
Indian J Ophthalmol 2021 Jul;69(7):1753-1757. doi: 10.4103/ijo.IJO_2916_20. PMID: 34146021Free PMC Article
The Risks and Benefits of Myopia Control.
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

Clinical prediction guides

Dual Sensory Impairment as a Predictor of Loneliness and Isolation in Older Adults: National Cohort Study.
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
Associations in corticocapsular adhesions.
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
Clinical and genetic findings in patients with congenital cataract and heart diseases.
Li X, Si N, Song Z, Ren Y, Xiao W
Orphanet J Rare Dis 2021 May 31;16(1):242. doi: 10.1186/s13023-021-01873-7. PMID: 34059112Free PMC Article
Global and regional prevalence of age-related cataract: a comprehensive systematic review and meta-analysis.
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
Radiation cataract.
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

The Association Between Eye Disease and Incidence of Dementia: Systematic Review and Meta-Analysis.
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
Early vitrectomy for exogenous endophthalmitis following surgery.
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
Pars plana vitrectomy versus scleral buckle: A comprehensive meta-analysis of 15,947 eyes.
Dhoot AS, Popovic MM, Nichani PAH, Eshtiaghi A, Mihalache A, Sayal AP, Yu H, Wykoff CC, Kertes PJ, Muni RH
Surv Ophthalmol 2022 Jul-Aug;67(4):932-949. Epub 2021 Dec 9 doi: 10.1016/j.survophthal.2021.12.005. PMID: 34896191
Global and regional prevalence of age-related cataract: a comprehensive systematic review and meta-analysis.
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
Interventions for preventing falls in older people living in the community.
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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