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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

Ahad MA, AlHilali SM, Jomar DE
Curr Opin Ophthalmol 2025 Jan 1;36(1):39-45. Epub 2024 Oct 16 doi: 10.1097/ICU.0000000000001094. PMID: 39423013
Mi Y, Zhu Q, Zheng X, Wan M
Food Funct 2024 May 7;15(9):5147-5157. doi: 10.1039/d4fo01559b. PMID: 38682722
Suc G, Schwartz GG, Goodman SG, Jukema JW, Manvelian G, Poulouin Y, Pordy R, Scemama M, Szarek M, Steg PG; ODYSSEY OUTCOMES Investigators
BMC Ophthalmol 2023 Jun 16;23(1):279. doi: 10.1186/s12886-023-03012-1. PMID: 37328736Free PMC Article
Sharma R, Shankar S, Kumar N, Vichhare N
Indian J Ophthalmol 2022 Nov;70(11):4089-4091. doi: 10.4103/ijo.IJO_1166_22. PMID: 36308170Free 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

Armstrong GW, Kalra G, De Arrigunaga S, Friedman DS, Lorch AC
Semin Ophthalmol 2021 May 19;36(4):149-156. Epub 2021 Mar 3 doi: 10.1080/08820538.2021.1887899. PMID: 33656960
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
Heher KL, Stark WJ, Miller NR
J Cataract Refract Surg 1993 Mar;19(2):306-8. doi: 10.1016/s0886-3350(13)80962-5. PMID: 8487180
Marak GE Jr
Surv Ophthalmol 1992 Mar-Apr;36(5):325-39. doi: 10.1016/0039-6257(92)90109-7. PMID: 1566234

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
Sharma R, Shankar S, Kumar N, Vichhare N
Indian J Ophthalmol 2022 Nov;70(11):4089-4091. doi: 10.4103/ijo.IJO_1166_22. PMID: 36308170Free PMC Article
Bartlett S, Hassan A, Ibrahim N, Isiyaku S, Muhammad N, Ngom B, Nwosu C
Int Health 2022 Apr 6;14(Suppl 1):i64-i67. doi: 10.1093/inthealth/ihab079. PMID: 35385869Free PMC Article
Veritti D, Sarao V, Diplotti L, Samassa F, Lanzetta P
Expert Opin Pharmacother 2017 Oct;18(14):1507-1516. Epub 2017 Aug 9 doi: 10.1080/14656566.2017.1363182. PMID: 28764565
Lanzetta P, Monaco P
Transplant Proc 2004 Dec;36(10):3046-8. doi: 10.1016/j.transproceed.2004.10.063. PMID: 15686691

Prognosis

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
Tu EY
Cornea 2017 Dec;36(12):1559-1561. doi: 10.1097/ICO.0000000000001351. PMID: 28872520
Li H, Lim JH, Liu J, Wong DW, Tan NM, Lu S, Zhang Z, Wong TY
Annu Int Conf IEEE Eng Med Biol Soc 2009;2009:3693-6. doi: 10.1109/IEMBS.2009.5334735. PMID: 19965005
Lanzetta P, Monaco P
Transplant Proc 2004 Dec;36(10):3046-8. doi: 10.1016/j.transproceed.2004.10.063. PMID: 15686691
Nuzzi R, Schiavino R
Panminerva Med 1993 Mar;35(1):36-46. PMID: 8316402

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
Suc G, Schwartz GG, Goodman SG, Jukema JW, Manvelian G, Poulouin Y, Pordy R, Scemama M, Szarek M, Steg PG; ODYSSEY OUTCOMES Investigators
BMC Ophthalmol 2023 Jun 16;23(1):279. doi: 10.1186/s12886-023-03012-1. PMID: 37328736Free 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
Shorstein NH, Carolan J, Liu L, Alexeeff SE, Amsden LB, Herrinton LJ
J Cataract Refract Surg 2021 Jul 1;47(7):870-877. doi: 10.1097/j.jcrs.0000000000000542. PMID: 33315744
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

Kato A, Horita N, Namkoong H, Nomura E, Masuhara N, Kaneko T, Mizuki N, Takeuchi M
Sci Rep 2022 Oct 18;12(1):17416. doi: 10.1038/s41598-022-21423-w. PMID: 36258003Free PMC Article
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

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