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Cataract 4 multiple types(CTRCT4)

MedGen UID:
761925
Concept ID:
C3540850
Disease or Syndrome
Synonyms: Autosomal dominant nonnuclear polymorphic congenital cataract; Cataract 4; CATARACT 4 WITH MICROCORNEA; CATARACT 4, ACULEIFORM; CATARACT 4, CENTRAL NUCLEAR; CATARACT 4, CRYSTALLINE; CATARACT 4, MULTIPLE TYPES, WITH OR WITHOUT MICROCORNEA; CATARACT 4, NONNUCLEAR POLYMORPHIC CONGENITAL; CATARACT 4, PUNCTATE; Cataract congenital dominant non nuclear
 
Gene (location): CRYGD (2q33.3)
 
Monarch Initiative: MONDO:0007281
OMIM®: 115700

Definition

Mutations in the CRYGD gene have been found to cause multiple types of cataract, which have been described as aculeiform, crystalline aculeiform, crystalline, crystal, frosted, needle-shaped, fasciculiform, congenital cerulean, nonnuclear polymorphic congenital, central nuclear, lamellar, and punctate. Some patients also exhibit microcornea. Because multiple types of cataract are caused by mutation in the CRYGD gene, some of which display intrafamilial variability, several earlier distinct cataract entries in OMIM have been included here. [from OMIM]

Clinical features

From HPO
Developmental cataract
MedGen UID:
3202
Concept ID:
C0009691
Congenital Abnormality
A cataract that occurs congenitally as the result of a developmental defect, in contrast to the majority of cataracts that occur in adulthood as the result of degenerative changes of the lens.

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
Vasilyeva TA, Marakhonov AV, Voskresenskaya AA, Kadyshev VV, Käsmann-Kellner B, Sukhanova NV, Katargina LA, Kutsev SI, Zinchenko RA
J Med Genet 2021 Apr;58(4):270-274. Epub 2020 May 28 doi: 10.1136/jmedgenet-2019-106172. PMID: 32467297
Pasquale LR, Dolgitser M, Wentzloff JN, Stern LS, Doyle JJ, Chiang TH, Walt JG
Ophthalmology 2008 Apr;115(4):633-638.e4. Epub 2007 Aug 22 doi: 10.1016/j.ophtha.2007.04.059. PMID: 17716736

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 JWY, Yick DWF, Tsang S, Yuen CYF, Lai JSM
Medicine (Baltimore) 2016 Apr;95(15):e3212. doi: 10.1097/MD.0000000000003212. PMID: 27082559Free 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
Lobo A, Barton K, Minassian D, du Bois RM, Lightman S
Clin Exp Ophthalmol 2003 Aug;31(4):310-6. doi: 10.1046/j.1442-9071.2003.00666.x. PMID: 12880455

Diagnosis

Kim KH, Mian SI
Curr Opin Ophthalmol 2020 Jul;31(4):261-267. doi: 10.1097/ICU.0000000000000675. PMID: 32487813
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
Tsai LT, Liao KM, Jang Y, Hu FC, Wu WC
PLoS One 2016;11(9):e0162383. Epub 2016 Sep 9 doi: 10.1371/journal.pone.0162383. PMID: 27611680Free PMC Article
Lobo A, Barton K, Minassian D, du Bois RM, Lightman S
Clin Exp Ophthalmol 2003 Aug;31(4):310-6. doi: 10.1046/j.1442-9071.2003.00666.x. PMID: 12880455
Cumming RG, Mitchell P, Smith W
Ophthalmology 2000 Mar;107(3):450-6. doi: 10.1016/s0161-6420(99)00024-x. PMID: 10711880

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
Popov I, Valašková J, Krásnik V, Tomčíková D
Cesk Slov Oftalmol 2019 Winter;74(4):158-161. doi: 10.31348/2018/1/4-6-2018. PMID: 30913892
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
Kodjikian L, Burillon C, Roques C, Pellon G, Renaud FN, Hartmann D, Freney J
Biomed Mater Eng 2004;14(4):395-409. PMID: 15472388
Lobo A, Barton K, Minassian D, du Bois RM, Lightman S
Clin Exp Ophthalmol 2003 Aug;31(4):310-6. doi: 10.1046/j.1442-9071.2003.00666.x. PMID: 12880455

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
Popov I, Valašková J, Krásnik V, Tomčíková D
Cesk Slov Oftalmol 2019 Winter;74(4):158-161. doi: 10.31348/2018/1/4-6-2018. PMID: 30913892
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
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
Lobo A, Barton K, Minassian D, du Bois RM, Lightman S
Clin Exp Ophthalmol 2003 Aug;31(4):310-6. doi: 10.1046/j.1442-9071.2003.00666.x. PMID: 12880455

Clinical prediction guides

Yao X, Yang H, Han H, Kou X, Jiang Y, Luo M, Zhou Y, Wang J, Fan X, Wang X, Li MJ, Yan H
Hum Genet 2023 Apr;142(4):507-522. Epub 2023 Mar 14 doi: 10.1007/s00439-023-02542-4. PMID: 36917350
Yotsukura E, Ayaki M, Nezu N, Torii H, Arai H, Sakatani K, Tsubota K, Negishi K
Sci Rep 2020 Oct 14;10(1):17273. doi: 10.1038/s41598-020-72846-2. PMID: 33057036Free PMC Article
Popov I, Valašková J, Krásnik V, Tomčíková D
Cesk Slov Oftalmol 2019 Winter;74(4):158-161. doi: 10.31348/2018/1/4-6-2018. PMID: 30913892
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
Tsai LT, Liao KM, Jang Y, Hu FC, Wu WC
PLoS One 2016;11(9):e0162383. Epub 2016 Sep 9 doi: 10.1371/journal.pone.0162383. PMID: 27611680Free PMC Article

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