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Cataract 20 multiple types(CTRCT20)

MedGen UID:
101117
Concept ID:
C0524524
Disease or Syndrome
Synonyms: CTRCT20; Membranous cataract
 
Gene (location): CRYGS (3q27.3)
 
HPO: HP:0010922
Monarch Initiative: MONDO:0007284
OMIM®: 116100

Definition

Mutation in the CRYGS gene has been identified in multiple types of cataract, which have been described as progressive polymorphic anterior, posterior, peripheral cortical, sutural, and lamellar. [from OMIM]

Clinical features

From HPO
Cataract 5 multiple types
MedGen UID:
78608
Concept ID:
C0266537
Congenital Abnormality
Congenital cataracts cause 10 to 30% of all blindness in children, with one-third of cases estimated to have a genetic cause (summary by Bu et al., 2002). Mutations in the HSF4 gene have been found to cause multiple types of cataract, which have been described as infantile, lamellar, zonular, nuclear, anterior polar, stellate, and Marner-type. The preferred title for this entry was formerly 'Lamellar Cataract,' with 'Cataract, Marner Type; CAM; CTM' an included title.
Cortical cataract
MedGen UID:
82868
Concept ID:
C0271160
Acquired Abnormality
A cataract which affects the layer of the lens surrounding the nucleus, i.e., the lens cortex. It is identified by its unique wedge or spoke appearance.
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.
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.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCataract 20 multiple types

Professional guidelines

PubMed

Wykrota AA, Abdin AD, Munteanu C, Löw U, Seitz B
Graefes Arch Clin Exp Ophthalmol 2023 Dec;261(12):3569-3579. Epub 2023 Jul 11 doi: 10.1007/s00417-023-06163-5. PMID: 37432451Free PMC Article

Recent clinical studies

Etiology

Wykrota AA, Abdin AD, Munteanu C, Löw U, Seitz B
Graefes Arch Clin Exp Ophthalmol 2023 Dec;261(12):3569-3579. Epub 2023 Jul 11 doi: 10.1007/s00417-023-06163-5. PMID: 37432451Free PMC Article
Chee SP, Chan NS, Yang Y, Ti SE
Br J Ophthalmol 2019 Apr;103(4):544-550. Epub 2018 Jun 15 doi: 10.1136/bjophthalmol-2018-312289. PMID: 29907631
Lee HK, Kim MK, Oh JY
Am J Ophthalmol 2018 Jan;185:75-80. Epub 2017 Oct 31 doi: 10.1016/j.ajo.2017.10.017. PMID: 29101006
Hashemi H, Rezvan F, Etemad K, Gilasi H, Asgari S, Mahdavi A, Mohazab-Torabi S, Yekta A, Khabazkhoob M
Optom Vis Sci 2016 Mar;93(3):266-71. doi: 10.1097/OPX.0000000000000795. PMID: 26760583
Wolthuis DF, Janssen MC, Cassiman D, Lefeber DJ, Morava E
Expert Rev Mol Diagn 2014 Mar;14(2):217-24. Epub 2014 Feb 13 doi: 10.1586/14737159.2014.890052. PMID: 24524732

Diagnosis

Hashemi H, Asharlous A, Yekta A, Aghamirsalim M, Nabovati P, Sadoughi MM, Khabazkhoob M
Jpn J Ophthalmol 2022 Sep;66(5):461-473. Epub 2022 Aug 10 doi: 10.1007/s10384-022-00936-x. PMID: 35947225
Senthil S, Rao HL, Ali MH, Krishnamurthy R, Dikshit S, Choudhari N, Sastry R, Garudadri C
Indian J Ophthalmol 2022 Mar;70(3):820-825. doi: 10.4103/ijo.IJO_1897_21. PMID: 35225522Free PMC Article
Chee SP, Chan NS, Yang Y, Ti SE
Br J Ophthalmol 2019 Apr;103(4):544-550. Epub 2018 Jun 15 doi: 10.1136/bjophthalmol-2018-312289. PMID: 29907631
Kim EJ, Sajjad A, Montes de Oca I, Koch DD, Wang L, Weikert MP, Al-Mohtaseb ZN
J Cataract Refract Surg 2017 Jun;43(6):761-766. doi: 10.1016/j.jcrs.2017.03.034. PMID: 28732609
Wolthuis DF, Janssen MC, Cassiman D, Lefeber DJ, Morava E
Expert Rev Mol Diagn 2014 Mar;14(2):217-24. Epub 2014 Feb 13 doi: 10.1586/14737159.2014.890052. PMID: 24524732

Therapy

Wykrota AA, Abdin AD, Munteanu C, Löw U, Seitz B
Graefes Arch Clin Exp Ophthalmol 2023 Dec;261(12):3569-3579. Epub 2023 Jul 11 doi: 10.1007/s00417-023-06163-5. PMID: 37432451Free PMC Article
Hashemi H, Asharlous A, Yekta A, Aghamirsalim M, Nabovati P, Sadoughi MM, Khabazkhoob M
Jpn J Ophthalmol 2022 Sep;66(5):461-473. Epub 2022 Aug 10 doi: 10.1007/s10384-022-00936-x. PMID: 35947225
Ahn JH, Kim DH, Shyn KH
Korean J Ophthalmol 2018 Feb;32(1):8-15. Epub 2018 Jan 25 doi: 10.3341/kjo.2017.0010. PMID: 29376229Free PMC Article
Hashemi H, Rezvan F, Etemad K, Gilasi H, Asgari S, Mahdavi A, Mohazab-Torabi S, Yekta A, Khabazkhoob M
Optom Vis Sci 2016 Mar;93(3):266-71. doi: 10.1097/OPX.0000000000000795. PMID: 26760583
Foster PJ, Wong TY, Machin D, Johnson GJ, Seah SK
Br J Ophthalmol 2003 Sep;87(9):1112-20. doi: 10.1136/bjo.87.9.1112. PMID: 12928278Free PMC Article

Prognosis

Wykrota AA, Abdin AD, Munteanu C, Löw U, Seitz B
Graefes Arch Clin Exp Ophthalmol 2023 Dec;261(12):3569-3579. Epub 2023 Jul 11 doi: 10.1007/s00417-023-06163-5. PMID: 37432451Free PMC Article
Chee SP, Chan NS, Yang Y, Ti SE
Br J Ophthalmol 2019 Apr;103(4):544-550. Epub 2018 Jun 15 doi: 10.1136/bjophthalmol-2018-312289. PMID: 29907631
Lee HK, Kim MK, Oh JY
Am J Ophthalmol 2018 Jan;185:75-80. Epub 2017 Oct 31 doi: 10.1016/j.ajo.2017.10.017. PMID: 29101006
Kim EJ, Sajjad A, Montes de Oca I, Koch DD, Wang L, Weikert MP, Al-Mohtaseb ZN
J Cataract Refract Surg 2017 Jun;43(6):761-766. doi: 10.1016/j.jcrs.2017.03.034. PMID: 28732609
Khan S, Finger PT, Yu GP, Razzaq L, Jager MJ, de Keizer RJ, Sandkull P, Seregard S, Gologorsky D, Schefler AC, Murray TG, Kivelä T, Giuliari GP, McGowan H, Simpson ER, Corriveau C, Coupland SE, Damato BE
Arch Ophthalmol 2012 Jan;130(1):57-64. Epub 2011 Sep 12 doi: 10.1001/archophthalmol.2011.286. PMID: 21911649

Clinical prediction guides

Chee SP, Chan NS, Yang Y, Ti SE
Br J Ophthalmol 2019 Apr;103(4):544-550. Epub 2018 Jun 15 doi: 10.1136/bjophthalmol-2018-312289. PMID: 29907631
Kim EJ, Sajjad A, Montes de Oca I, Koch DD, Wang L, Weikert MP, Al-Mohtaseb ZN
J Cataract Refract Surg 2017 Jun;43(6):761-766. doi: 10.1016/j.jcrs.2017.03.034. PMID: 28732609
Schrader SA
Am J Phys Anthropol 2015 Feb;156(2):192-202. Epub 2014 Oct 18 doi: 10.1002/ajpa.22637. PMID: 25327628

Recent systematic reviews

Wolthuis DF, Janssen MC, Cassiman D, Lefeber DJ, Morava E
Expert Rev Mol Diagn 2014 Mar;14(2):217-24. Epub 2014 Feb 13 doi: 10.1586/14737159.2014.890052. PMID: 24524732

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