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Cataract 36(CATC4; CTRCT36)

MedGen UID:
462654
Concept ID:
C3151304
Disease or Syndrome
Synonym: Cataract, autosomal recessive congenital 4
 
Gene (location): TDRD7 (9q22.33)
 
Monarch Initiative: MONDO:0013484
OMIM®: 613887

Definition

Any cataract in which the cause of the disease is a mutation in the TDRD7 gene. [from MONDO]

Clinical features

From HPO
Cataract
MedGen UID:
39462
Concept ID:
C0086543
Disease or Syndrome
A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.

Professional guidelines

PubMed

Jiang Y, Yi Z, Zheng Y, Ouyang J, Guo D, Li S, Xiao X, Wang P, Sun W, Zhang Q
Invest Ophthalmol Vis Sci 2024 Aug 1;65(10):46. doi: 10.1167/iovs.65.10.46. PMID: 39212610Free PMC Article
Celiker H, Çam F, Özkoçak BY
Graefes Arch Clin Exp Ophthalmol 2024 Jul;262(7):2237-2246. Epub 2024 Feb 16 doi: 10.1007/s00417-024-06407-y. PMID: 38363356Free PMC Article
Ness T, Boehringer D, Heinzelmann S
Orphanet J Rare Dis 2017 Apr 27;12(1):81. doi: 10.1186/s13023-017-0638-9. PMID: 28449695Free PMC Article

Recent clinical studies

Etiology

Sesso HD, Rautiainen S, Park SJ, Kim E, Lee IM, Glynn RJ, Buring JE, Christen WG
J Nutr 2024 Apr;154(4):1404-1413. Epub 2024 Mar 1 doi: 10.1016/j.tjnut.2024.02.028. PMID: 38432561Free 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
Kristianslund O, Kure ISH, Drolsum L
Tidsskr Nor Laegeforen 2021 Jun 8;141(9) Epub 2021 May 25 doi: 10.4045/tidsskr.20.1005. PMID: 34107671
Song P, Wang H, Theodoratou E, Chan KY, Rudan I
J Glob Health 2018 Jun;8(1):010804. doi: 10.7189/jogh.08.010804. PMID: 29977532Free PMC Article
Papageorgiou E, McLean RJ, Gottlob I
Pediatr Neonatol 2014 Oct;55(5):341-51. Epub 2014 Jul 31 doi: 10.1016/j.pedneo.2014.02.007. PMID: 25086850

Diagnosis

Ueno Y, Oda M, Yamaguchi T, Fukuoka H, Nejima R, Kitaguchi Y, Miyake M, Akiyama M, Miyata K, Kashiwagi K, Maeda N, Shimazaki J, Noma H, Mori K, Oshika T
Br J Ophthalmol 2024 Sep 20;108(10):1406-1413. doi: 10.1136/bjo-2023-324488. PMID: 38242700Free PMC Article
Montesano G, Ometto G, Ahmed IIK, Ramulu PY, Chang DF, Crabb DP, Gazzard G
Am J Ophthalmol 2023 Jul;251:143-155. Epub 2023 Feb 21 doi: 10.1016/j.ajo.2023.02.008. PMID: 36813144
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
Oke I, VanderVeen D
Semin Ophthalmol 2021 May 19;36(4):210-217. Epub 2021 Feb 27 doi: 10.1080/08820538.2021.1890151. PMID: 33641598
Papageorgiou E, McLean RJ, Gottlob I
Pediatr Neonatol 2014 Oct;55(5):341-51. Epub 2014 Jul 31 doi: 10.1016/j.pedneo.2014.02.007. PMID: 25086850

Therapy

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
Reddy A, Liu SH, Brady CJ, Sieving PC, Palestine AG
Cochrane Database Syst Rev 2023 Aug 29;8(8):CD010469. doi: 10.1002/14651858.CD010469.pub4. PMID: 37642198Free PMC Article
Montesano G, Ometto G, Ahmed IIK, Ramulu PY, Chang DF, Crabb DP, Gazzard G
Am J Ophthalmol 2023 Jul;251:143-155. Epub 2023 Feb 21 doi: 10.1016/j.ajo.2023.02.008. PMID: 36813144
Novack GD, Caspar JJ
J Ocul Pharmacol Ther 2020 Nov;36(9):668-671. Epub 2020 Jun 22 doi: 10.1089/jop.2020.0034. PMID: 32580612
Song P, Wang H, Theodoratou E, Chan KY, Rudan I
J Glob Health 2018 Jun;8(1):010804. doi: 10.7189/jogh.08.010804. PMID: 29977532Free PMC Article

Prognosis

Torbey J, Mansouri K
Curr Opin Ophthalmol 2025 Jan 1;36(1):54-61. Epub 2024 Nov 7 doi: 10.1097/ICU.0000000000001105. PMID: 39508422
Sesso HD, Rautiainen S, Park SJ, Kim E, Lee IM, Glynn RJ, Buring JE, Christen WG
J Nutr 2024 Apr;154(4):1404-1413. Epub 2024 Mar 1 doi: 10.1016/j.tjnut.2024.02.028. PMID: 38432561Free PMC Article
Agarwal K, Hatch K
Semin Ophthalmol 2021 Nov 17;36(8):618-627. Epub 2021 Jun 4 doi: 10.1080/08820538.2021.1890792. PMID: 34082659
Qureshi MH, Steel DHW
Eye (Lond) 2020 Apr;34(4):616-631. Epub 2019 Oct 1 doi: 10.1038/s41433-019-0575-z. PMID: 31576027Free PMC Article
Sheeladevi S, Lawrenson JG, Fielder AR, Suttle CM
Eye (Lond) 2016 Sep;30(9):1160-9. Epub 2016 Aug 12 doi: 10.1038/eye.2016.156. PMID: 27518543Free PMC Article

Clinical prediction guides

Wang S, Du Z, Lai C, Seth I, Wang Y, Huang Y, Fang Y, Liao H, Hu Y, Yu H, Zhang X
Int J Surg 2024 Apr 1;110(4):2300-2312. doi: 10.1097/JS9.0000000000001105. PMID: 38668662Free 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
Agarwal K, Hatch K
Semin Ophthalmol 2021 Nov 17;36(8):618-627. Epub 2021 Jun 4 doi: 10.1080/08820538.2021.1890792. PMID: 34082659
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
GBD 2019 Blindness and Vision Impairment Collaborators; Vision Loss Expert Group of the Global Burden of Disease Study
Lancet Glob Health 2021 Feb;9(2):e144-e160. Epub 2020 Dec 1 doi: 10.1016/S2214-109X(20)30489-7. PMID: 33275949Free PMC Article

Recent systematic reviews

Qian L, Wei W
PLoS One 2022;17(8):e0271267. Epub 2022 Aug 19 doi: 10.1371/journal.pone.0271267. PMID: 35984830Free PMC Article
Vagge A, Ferro Desideri L, Del Noce C, Di Mola I, Sindaco D, Traverso CE
Semin Ophthalmol 2021 Oct 3;36(7):541-548. Epub 2021 Mar 18 doi: 10.1080/08820538.2021.1900283. PMID: 33734926
GBD 2019 Blindness and Vision Impairment Collaborators; Vision Loss Expert Group of the Global Burden of Disease Study
Lancet Glob Health 2021 Feb;9(2):e144-e160. Epub 2020 Dec 1 doi: 10.1016/S2214-109X(20)30489-7. PMID: 33275949Free PMC Article
Flaxman SR, Bourne RRA, Resnikoff S, Ackland P, Braithwaite T, Cicinelli MV, Das A, Jonas JB, Keeffe J, Kempen JH, Leasher J, Limburg H, Naidoo K, Pesudovs K, Silvester A, Stevens GA, Tahhan N, Wong TY, Taylor HR; Vision Loss Expert Group of the Global Burden of Disease Study
Lancet Glob Health 2017 Dec;5(12):e1221-e1234. Epub 2017 Oct 11 doi: 10.1016/S2214-109X(17)30393-5. PMID: 29032195
Sheeladevi S, Lawrenson JG, Fielder AR, Suttle CM
Eye (Lond) 2016 Sep;30(9):1160-9. Epub 2016 Aug 12 doi: 10.1038/eye.2016.156. PMID: 27518543Free PMC Article

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