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Cataract 40(CTRCT40)

MedGen UID:
886621
•Concept ID:
C4049004
•
Congenital Abnormality; Disease or Syndrome
Synonyms: CATARACT 40 WITH OR WITHOUT MICROCORNEA; Cataract 40, X-linked; CATARACT, CONGENITAL TOTAL, WITH POSTERIOR SUTURAL OPACITIES IN HETEROZYGOTES; Cataract, congenital, X-linked; CTRCT40
 
Gene (location): NHS (Xp22.2-22.13)
 
Monarch Initiative: MONDO:0010544
OMIM®: 302200

Definition

Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the NHS gene. [from MONDO]

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
Severely reduced visual acuity
MedGen UID:
226987
•Concept ID:
C1301509
•
Disease or Syndrome
Severe reduction of the ability to see. On the 6m visual acuity scale, severe reduction is defined as less than 6/60 but at least 3/60. On the 20ft visual acuity scale, severe reduction is defined as less than 20/200 but at least 20/400. On the decimal visual acuity scale, severe reduction is defined as less than 0.1 but at least 0.05.
See: Feature record | Search on this feature
Sutural cataract
MedGen UID:
869308
•Concept ID:
C4023734
•
Disease or Syndrome
A type of congenital cataract in which the opacity follows the anterior or posterior Y suture.
See: Feature record | Search on this feature

Professional guidelines

PubMed

Twelve-month experience with Ozurdex for the treatment of macular edema associated with retinal vein occlusion.
Mayer WJ, Wolf A, Kernt M, Kook D, Kampik A, Ulbig M, Haritoglou C
Eye (Lond) 2013 Jul;27(7):816-22. Epub 2013 Apr 19 doi: 10.1038/eye.2013.79. PMID: 23598674Free PMC Article
Difficult-to-treat nephrotic syndrome: management and outcome.
Sumboonnanonda A, Chongchate N, Suntornpoch V, Pattaragarn A, Supavekin S
J Med Assoc Thai 2005 Nov;88 Suppl 8:S142-8. PMID: 16856434

Recent clinical studies

Etiology

Cataract surgery in myopic eyes.
Elhusseiny AM, Salim S
Curr Opin Ophthalmol 2023 Jan 1;34(1):64-70. Epub 2022 Nov 24 doi: 10.1097/ICU.0000000000000914. PMID: 36473016
Association of optical cataract indices with cataract severity and visual function.
de Souza RG, Golla A, Khan M, de Oca IM, Khandelwal S, Al-Mohtaseb Z
Int Ophthalmol 2022 Jan;42(1):27-33. Epub 2021 Aug 10 doi: 10.1007/s10792-021-01995-8. PMID: 34378173
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
Gender and cataract--the role of estrogen.
Zetterberg M, Celojevic D
Curr Eye Res 2015 Feb;40(2):176-90. Epub 2014 Jul 2 doi: 10.3109/02713683.2014.898774. PMID: 24987869
Childhood cataracts.
Chia WL, Martin F
Clin Exp Ophthalmol 2001 Apr;29(2):75-80. PMID: 11341450

Diagnosis

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
Association of optical cataract indices with cataract severity and visual function.
de Souza RG, Golla A, Khan M, de Oca IM, Khandelwal S, Al-Mohtaseb Z
Int Ophthalmol 2022 Jan;42(1):27-33. Epub 2021 Aug 10 doi: 10.1007/s10792-021-01995-8. PMID: 34378173
Astigmatism Management with Intraocular Lens Surgery.
Keshav V, Henderson BA
Ophthalmology 2021 Nov;128(11):e153-e163. Epub 2020 Aug 13 doi: 10.1016/j.ophtha.2020.08.011. PMID: 32798525
Prevalence and associated factors of cataract and cataract-related blindness in the Russian Ural Eye and Medical Study.
Bikbov MM, Kazakbaeva GM, Gilmanshin TR, Zainullin RM, Nuriev IF, Zaynetdinov AF, Israfilova GZ, Panda-Jonas S, Arslangareeva II, Rakhimova EM, Rusakova IA, Jonas JB
Sci Rep 2020 Oct 23;10(1):18157. doi: 10.1038/s41598-020-75313-0. PMID: 33097810Free PMC Article
Pediatric cataract.
Mickler C, Boden J, Trivedi RH, Wilson ME
Pediatr Ann 2011 Feb;40(2):83-7. doi: 10.3928/00904481-20110117-07. PMID: 21323204

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
Corticosteroid implants for chronic non-infectious uveitis.
Reddy A, Liu SH, Brady CJ, Sieving PC, Palestine AG
Cochrane Database Syst Rev 2023 Jan 16;1(1):CD010469. doi: 10.1002/14651858.CD010469.pub3. PMID: 36645716Free PMC Article
Topical corticosteroids for dry eye.
Liu SH, Saldanha IJ, Abraham AG, Rittiphairoj T, Hauswirth S, Gregory D, Ifantides C, Li T
Cochrane Database Syst Rev 2022 Oct 21;10(10):CD015070. doi: 10.1002/14651858.CD015070.pub2. PMID: 36269562Free PMC Article
Long-term Effect of Intraocular Lens vs Contact Lens Correction on Visual Acuity After Cataract Surgery During Infancy: A Randomized Clinical Trial.
Lambert SR, Cotsonis G, DuBois L, Nizam Ms A, Kruger SJ, Hartmann EE, Weakley DR Jr, Drews-Botsch C; Infant Aphakia Treatment Study Group
JAMA Ophthalmol 2020 Apr 1;138(4):365-372. doi: 10.1001/jamaophthalmol.2020.0006. PMID: 32077909Free PMC Article
Frequency of Cataract in Iran: A Meta-Analysis and Systematic Review.
Shahdadi H, Aminifard MN, Balouchi A, Rafiemanesh H, Allahyari J
Middle East Afr J Ophthalmol 2018 Jan-Mar;25(1):40-46. doi: 10.4103/meajo.MEAJO_300_17. PMID: 29899650Free PMC Article

Prognosis

Incidence of and Risk Factors for Cataract in Anterior Uveitis.
Papaliodis GN, Rosner BA, Dreger KA, Fitzgerald TD, Artornsombudh P, Kothari S, Gangaputra SS, Levy-Clarke GA, Nussenblatt RB, Rosenbaum JT, Sen HN, Suhler EB, Thorne JE, Bhatt NP, Foster CS, Jabs DA, Pak CM, Ying GS, Kempen JH; Systemic Immunosuppressive Therapy for Eye Diseases (SITE) Cohort Study Research Group
Am J Ophthalmol 2023 Oct;254:221-232. Epub 2023 Jul 5 doi: 10.1016/j.ajo.2023.06.021. PMID: 37414328Free PMC Article
Cataract surgery in myopic eyes.
Elhusseiny AM, Salim S
Curr Opin Ophthalmol 2023 Jan 1;34(1):64-70. Epub 2022 Nov 24 doi: 10.1097/ICU.0000000000000914. PMID: 36473016
Long-term Effect of Intraocular Lens vs Contact Lens Correction on Visual Acuity After Cataract Surgery During Infancy: A Randomized Clinical Trial.
Lambert SR, Cotsonis G, DuBois L, Nizam Ms A, Kruger SJ, Hartmann EE, Weakley DR Jr, Drews-Botsch C; Infant Aphakia Treatment Study Group
JAMA Ophthalmol 2020 Apr 1;138(4):365-372. doi: 10.1001/jamaophthalmol.2020.0006. PMID: 32077909Free PMC Article
Frequency of Cataract in Iran: A Meta-Analysis and Systematic Review.
Shahdadi H, Aminifard MN, Balouchi A, Rafiemanesh H, Allahyari J
Middle East Afr J Ophthalmol 2018 Jan-Mar;25(1):40-46. doi: 10.4103/meajo.MEAJO_300_17. PMID: 29899650Free PMC Article
Infantile cataracts.
Lambert SR, Drack AV
Surv Ophthalmol 1996 May-Jun;40(6):427-58. doi: 10.1016/s0039-6257(96)82011-x. PMID: 8724637

Clinical prediction guides

Cataract surgery in myopic eyes.
Elhusseiny AM, Salim S
Curr Opin Ophthalmol 2023 Jan 1;34(1):64-70. Epub 2022 Nov 24 doi: 10.1097/ICU.0000000000000914. PMID: 36473016
Visual simulations of presbyopic corrections through cataract opacification.
Barcala X, Zaytouny A, Rego-Lorca D, Sanchez-Quiros J, Sanchez-Jean R, Martinez-de-la-Casa JM, Dorronsoro C, Marcos S
J Cataract Refract Surg 2023 Jan 1;49(1):34-43. Epub 2022 Aug 12 doi: 10.1097/j.jcrs.0000000000001040. PMID: 35971215Free PMC Article
Topical corticosteroids for dry eye.
Liu SH, Saldanha IJ, Abraham AG, Rittiphairoj T, Hauswirth S, Gregory D, Ifantides C, Li T
Cochrane Database Syst Rev 2022 Oct 21;10(10):CD015070. doi: 10.1002/14651858.CD015070.pub2. PMID: 36269562Free PMC Article
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
Astigmatism Management with Intraocular Lens Surgery.
Keshav V, Henderson BA
Ophthalmology 2021 Nov;128(11):e153-e163. Epub 2020 Aug 13 doi: 10.1016/j.ophtha.2020.08.011. PMID: 32798525

Recent systematic reviews

Topical corticosteroids for dry eye.
Liu SH, Saldanha IJ, Abraham AG, Rittiphairoj T, Hauswirth S, Gregory D, Ifantides C, Li T
Cochrane Database Syst Rev 2022 Oct 21;10(10):CD015070. doi: 10.1002/14651858.CD015070.pub2. PMID: 36269562Free PMC Article
Trends in prevalence of blindness and distance and near vision impairment over 30 years: 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):e130-e143. Epub 2020 Dec 1 doi: 10.1016/S2214-109X(20)30425-3. PMID: 33275950Free 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
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
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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      Clinical tests in GTR
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      Related records in OMIM
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      OMIM records containing genes associated with phenotypes registered in MedGen
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