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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.
See: Feature record | Search on this feature

Professional guidelines

PubMed

The Systemic Genotype-Phenotype Characterization of PAX6-Related Eye Disease in 164 Chinese Families.
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
Outcomes of pars plana vitrectomy in the management and diagnosis of patients with infectious, non-infectious, and unidentified uveitis.
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
Intermediate uveitis: pattern of etiology, complications, treatment and outcome in a tertiary academic center.
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

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 Norway 2010-19.
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
Congenital cataract - clinical and morphological aspects.
Tătaru CI, Tătaru CP, Costache A, Boruga O, Zemba M, Ciuluvică RC, Sima G
Rom J Morphol Embryol 2020;61(1):105-112. doi: 10.47162/RJME.61.1.11. PMID: 32747900Free PMC Article
The national and subnational prevalence of cataract and cataract blindness in China: a systematic review and meta-analysis.
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
Nystagmus in childhood.
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

Five-Year Visual Field Outcomes of the HORIZON Trial.
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
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
Anterior Segment Imaging Devices in Ophthalmic Telemedicine.
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
Machine Learning Applications in Pediatric Ophthalmology.
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
Nystagmus in childhood.
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

Corticosteroid implants for chronic non-infectious uveitis.
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
Five-Year Visual Field Outcomes of the HORIZON Trial.
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
Peri-Operative Intracameral Antibiotics: The Perfect Storm?
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
The national and subnational prevalence of cataract and cataract blindness in China: a systematic review and meta-analysis.
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
Vision improvement and reduction in falls after expedited cataract surgery Systematic review and metaanalysis.
Desapriya E, Subzwari S, Scime-Beltrano G, Samayawardhena LA, Pike I
J Cataract Refract Surg 2010 Jan;36(1):13-9. doi: 10.1016/j.jcrs.2009.07.032. PMID: 20117700

Prognosis

Self-reported cataract surgery and 10-year all-cause and cause-specific mortality: findings from the National Health and Nutrition Examination Survey.
Chen Y, Wang W, Liao H, Shi D, Tan Z, Shang X, Zhang X, Huang Y, Deng Q, Yu H, Yang X, He M, Zhu Z
Br J Ophthalmol 2023 Mar;107(3):430-435. Epub 2021 Oct 25 doi: 10.1136/bjophthalmol-2021-319678. PMID: 34697024
Femtosecond Laser Assisted Cataract Surgery: A Review.
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
Retinal detachment following cataract phacoemulsification-a review of the literature.
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
Ocular manifestations in Gorlin-Goltz syndrome.
Moramarco A, Himmelblau E, Miraglia E, Mallone F, Roberti V, Franzone F, Iacovino C, Giustini S, Lambiase A
Orphanet J Rare Dis 2019 Sep 18;14(1):218. doi: 10.1186/s13023-019-1190-6. PMID: 31533758Free PMC Article
Global prevalence of childhood cataract: a systematic review.
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

Correlation between neutrophil-to-lymphocyte ratio and clinical manifestations and complications of retinitis pigmentosa.
He M, Wu T, Zhang L, Ye W, Ma J, Zhao C, Liu J, Zhou J
Acta Ophthalmol 2022 Feb;100(1):e278-e287. Epub 2021 Jun 2 doi: 10.1111/aos.14880. PMID: 34080305
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
Femtosecond Laser Assisted Cataract Surgery: A Review.
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
Risk of Cataract in Intermediate Uveitis.
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
Causes of blindness and vision impairment in 2020 and trends over 30 years, and prevalence of avoidable blindness in relation to VISION 2020: the Right to Sight: an analysis for the Global Burden of Disease Study.
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

Identified risk factors for dry eye syndrome: A systematic review and meta-analysis.
Qian L, Wei W
PLoS One 2022;17(8):e0271267. Epub 2022 Aug 19 doi: 10.1371/journal.pone.0271267. PMID: 35984830Free PMC Article
Blue light filtering ophthalmic lenses: A systematic review.
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
Causes of blindness and vision impairment in 2020 and trends over 30 years, and prevalence of avoidable blindness in relation to VISION 2020: the Right to Sight: an analysis for the Global Burden of Disease Study.
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
Global causes of blindness and distance vision impairment 1990-2020: a systematic review and meta-analysis.
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
Global prevalence of childhood cataract: a systematic review.
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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      Clinical tests in GTR
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    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
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