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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.
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.
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.

Professional guidelines

PubMed

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
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

Falkowska M, Młynarczyk M, Micun Z, Konopińska J, Socha K
Nutrients 2023 Oct 28;15(21) doi: 10.3390/nu15214585. PMID: 37960238Free PMC Article
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
Bardoloi N, Sarkar S, Burgute PS, Ghosh D, Deb AK
Indian J Ophthalmol 2021 Jul;69(7):1781-1785. doi: 10.4103/ijo.IJO_2723_20. PMID: 34146028Free PMC Article
Wu SY, Leske MC
Int Ophthalmol Clin 2000 Fall;40(4):71-81. doi: 10.1097/00004397-200010000-00006. PMID: 11064858
Roth M, Epstein DL
Am J Ophthalmol 1980 Apr;89(4):477-81. doi: 10.1016/0002-9394(80)90054-9. PMID: 7369310

Diagnosis

Dandekar P, Chaurasia S
BMJ Case Rep 2023 Feb 17;16(2) doi: 10.1136/bcr-2021-248550. PMID: 36805864Free PMC Article
Mickler C, Boden J, Trivedi RH, Wilson ME
Pediatr Ann 2011 Feb;40(2):83-7. doi: 10.3928/00904481-20110117-07. PMID: 21323204
Maurer D, Mondloch CJ, Lewis TL
Dev Sci 2007 Jan;10(1):40-7. doi: 10.1111/j.1467-7687.2007.00562.x. PMID: 17181698
Potter WS
Pediatr Clin North Am 1993 Aug;40(4):841-53. doi: 10.1016/s0031-3955(16)38591-1. PMID: 8345970
Roth M, Epstein DL
Am J Ophthalmol 1980 Apr;89(4):477-81. doi: 10.1016/0002-9394(80)90054-9. PMID: 7369310

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
Narayan A, Evans JR, O'Brart D, Bunce C, Gore DM, Day AC
Cochrane Database Syst Rev 2023 Jun 23;6(6):CD010735. doi: 10.1002/14651858.CD010735.pub3. PMID: 37369549Free PMC Article
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
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
Pleyer U, Sherif Z
Ernst Schering Res Found Workshop 2002;(40):65-81. doi: 10.1007/978-3-662-04660-9_5. PMID: 12355729

Prognosis

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
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
Lambert SR, Drack AV
Surv Ophthalmol 1996 May-Jun;40(6):427-58. doi: 10.1016/s0039-6257(96)82011-x. PMID: 8724637
Layden WE
Ophthalmology 1982 Aug;89(8):875-9. doi: 10.1016/s0161-6420(82)34701-6. PMID: 7133634
Roth M, Epstein DL
Am J Ophthalmol 1980 Apr;89(4):477-81. doi: 10.1016/0002-9394(80)90054-9. PMID: 7369310

Clinical prediction guides

Hsu AY, Kuo HT, Lin CJ, Hsia NY, Kuo SC, Wei CC, Lai CT, Chen HS, Wang YH, Wei JC, Tsai YY
JAMA Netw Open 2024 Jul 1;7(7):e2419366. doi: 10.1001/jamanetworkopen.2024.19366. PMID: 38949811Free PMC Article
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
Khavandi S, Lim E, Higham A, de Pennington N, Bindra M, Maling S, Adams M, Mole G
Eye (Lond) 2023 Jul;37(10):2069-2076. Epub 2022 Oct 23 doi: 10.1038/s41433-022-02289-8. PMID: 36274084Free PMC Article
Gehlsen U, Faust C, Blecha C, Dietrich-Ntoukas T, Eberwein P, Issleib S, Meyer-Ter-Vehn T, Braun R, Westekemper H, Steven P
Graefes Arch Clin Exp Ophthalmol 2022 Aug;260(8):2613-2622. Epub 2022 Mar 7 doi: 10.1007/s00417-022-05613-w. PMID: 35254513Free PMC Article
Hoffer KJ, Kraff MC
Ophthalmology 1980 Sep;87(9):861-6. doi: 10.1016/s0161-6420(80)35149-x. PMID: 7413150

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
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
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
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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