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Diffuse nuclear cataract

MedGen UID:
870376
Concept ID:
C4024821
Disease or Syndrome
HPO: HP:0007657

Definition

Opacity of the entire lens nucleus. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDiffuse nuclear cataract

Conditions with this feature

Cataract 30
MedGen UID:
811741
Concept ID:
C3805411
Disease or Syndrome
Mutations in the VIM gene have been found to cause multiple types of congenital cataract, which have been described as congenital, pulverulent, and posterior polar.

Professional guidelines

PubMed

Jonas JB
Acta Ophthalmol Scand 2005 Dec;83(6):645-63. doi: 10.1111/j.1600-0420.2005.00592.x. PMID: 16396641

Recent clinical studies

Etiology

Fram NR, McKee Y, Chang DF, Chee SP, Donaldson KE, Crandall DA, Al-Mohtaseb Z, Chen AJ
J Cataract Refract Surg 2023 Feb 1;49(2):221-222. doi: 10.1097/j.jcrs.0000000000001129. PMID: 36700891
Chang PY
Digit J Ophthalmol 2022;28(4):119-125. Epub 2022 Dec 28 doi: 10.5693/djo.02.2022.10.002. PMID: 36660185Free PMC Article
Valeina S, Heede S, Erts R, Sepetiene S, Skaistkalne E, Radecka L, Vanags J, Laganovska G
Eur J Ophthalmol 2020 Sep;30(5):933-940. Epub 2019 Apr 26 doi: 10.1177/1120672119845228. PMID: 31025587
Beebe DC, Shui YB, Siegfried CJ, Holekamp NM, Bai F
Jpn J Ophthalmol 2014 May;58(3):225-31. Epub 2014 Apr 2 doi: 10.1007/s10384-014-0318-4. PMID: 24687817
Bursell SE, Baker RS, Weiss JN, Haughton JF, Rand LI
Exp Eye Res 1989 Aug;49(2):241-58. doi: 10.1016/0014-4835(89)90094-8. PMID: 2767171

Diagnosis

Chang PY
Digit J Ophthalmol 2022;28(4):119-125. Epub 2022 Dec 28 doi: 10.5693/djo.02.2022.10.002. PMID: 36660185Free PMC Article
Bezen D, Kutlu O, Mouilleron S, Rizzoti K, Dattani M, Guran T, Yeşil G
Am J Med Genet A 2022 Sep;188(9):2701-2706. Epub 2022 Jul 6 doi: 10.1002/ajmg.a.62888. PMID: 35792517
Kumar PS, Rao A, Senthil S
J Glaucoma 2019 Jul;28(7):e115-e117. doi: 10.1097/IJG.0000000000001219. PMID: 30807439
Alasil T, Coady PA, Koudsi S, Mathur M, Materin MA
Retin Cases Brief Rep 2017 Winter;11(1):71-74. doi: 10.1097/ICB.0000000000000292. PMID: 27046327
Thurston GM, Hayden DL, Burrows P, Clark JI, Taret VG, Kandel J, Courogen M, Peetermans JA, Bowen MS, Miller D, Sullivan KM, Storb R, Stern H, Benedek GB
Curr Eye Res 1997 Mar;16(3):197-207. doi: 10.1076/ceyr.16.3.197.15410. PMID: 9088735

Therapy

Jing Z, Hao J, Sun L, Zhao X, Jia X, Liu Z, Zhang K
Cell Mol Biol (Noisy-le-grand) 2023 Apr 30;69(4):164-171. doi: 10.14715/cmb/2023.69.4.26. PMID: 37329530
Fram NR, McKee Y, Chang DF, Chee SP, Donaldson KE, Crandall DA, Al-Mohtaseb Z, Chen AJ
J Cataract Refract Surg 2023 Feb 1;49(2):221-222. doi: 10.1097/j.jcrs.0000000000001129. PMID: 36700891
Ten Hulzen RD, Wagner IV, Aref AA, Provencher LM, Razeghinejad R, Danesh-Meyer HV, Goyal S, De Francesco T, Ahmed IIK
J Cataract Refract Surg 2022 Jul 1;48(7):863. doi: 10.1097/j.jcrs.0000000000000979. PMID: 35749070
Valeina S, Heede S, Erts R, Sepetiene S, Skaistkalne E, Radecka L, Vanags J, Laganovska G
Eur J Ophthalmol 2020 Sep;30(5):933-940. Epub 2019 Apr 26 doi: 10.1177/1120672119845228. PMID: 31025587
Jonas JB
Ophthalmic Res 2006;38(4):218-45. Epub 2006 Jun 6 doi: 10.1159/000093796. PMID: 16763379

Prognosis

Fram NR, McKee Y, Chang DF, Chee SP, Donaldson KE, Crandall DA, Al-Mohtaseb Z, Chen AJ
J Cataract Refract Surg 2023 Feb 1;49(2):221-222. doi: 10.1097/j.jcrs.0000000000001129. PMID: 36700891
Chang PY
Digit J Ophthalmol 2022;28(4):119-125. Epub 2022 Dec 28 doi: 10.5693/djo.02.2022.10.002. PMID: 36660185Free PMC Article
Ten Hulzen RD, Wagner IV, Aref AA, Provencher LM, Razeghinejad R, Danesh-Meyer HV, Goyal S, De Francesco T, Ahmed IIK
J Cataract Refract Surg 2022 Jul 1;48(7):863. doi: 10.1097/j.jcrs.0000000000000979. PMID: 35749070
Carpel EF, Henderson V
J Cataract Refract Surg 1986 May;12(3):276-7. doi: 10.1016/s0886-3350(86)80008-6. PMID: 3712267

Clinical prediction guides

Papadopoulou M, Papadaki H, Zolota V, Gartaganis SP
Curr Eye Res 2017 Jun;42(6):880-889. Epub 2017 Jan 13 doi: 10.1080/02713683.2016.1257726. PMID: 28085506
Alasil T, Coady PA, Koudsi S, Mathur M, Materin MA
Retin Cases Brief Rep 2017 Winter;11(1):71-74. doi: 10.1097/ICB.0000000000000292. PMID: 27046327
Rejdak R, Oleszczuk A, Rummelt C, Turski WA, Choragiewicz T, Nowomiejska K, Ksiazek K, Thaler S, Zarnowski T, Okuno E, Grieb P, Zrenner E, Kruse F, Junemann AG
Acta Ophthalmol 2013 Sep;91(6):e450-5. Epub 2013 Apr 17 doi: 10.1111/aos.12138. PMID: 23590420
Deeley JM, Hankin JA, Friedrich MG, Murphy RC, Truscott RJ, Mitchell TW, Blanksby SJ
J Lipid Res 2010 Sep;51(9):2753-60. Epub 2010 Jun 14 doi: 10.1194/jlr.M007716. PMID: 20547889Free PMC Article
Jonas JB
Ophthalmic Res 2006;38(4):218-45. Epub 2006 Jun 6 doi: 10.1159/000093796. PMID: 16763379

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