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Cataract 14 multiple types(CZP3; CTRCT14)

MedGen UID:
356152
•Concept ID:
C1866078
•
Disease or Syndrome
Synonyms: CATARACT 14, COPPOCK-LIKE; CATARACT 14, EMBRYONAL NUCLEAR; CATARACT 14, NUCLEAR CORALLIFORM; CATARACT 14, NUCLEAR PULVERULENT; CATARACT 14, NUCLEAR PULVERULENT AND POSTERIOR POLAR; CATARACT 14, ZONULAR PULVERULENT; Zonular pulverulent cataract 3
 
Gene (location): GJA3 (13q12.11)
 
Monarch Initiative: MONDO:0011162
OMIM®: 601885

Definition

Mutations in the GJA3 gene have been found to cause multiple types of cataract, which have been described as zonular pulverulent, posterior polar, nuclear coralliform, embryonal nuclear, and Coppock-like. The preferred title/symbol for this entry was formerly 'Cataract, Zonular Pulverulent 3; CZP3.' [from OMIM]

Clinical features

From HPO
Zonular cataract
MedGen UID:
350517
•Concept ID:
C1861821
•
Disease or Syndrome
Zonular cataracts are defined to be cataracts that affect specific regions of the lens.
See: Feature record | Search on this feature

Professional guidelines

PubMed

Globe conserving treatment of the only eye in bilateral retinoblastoma.
Lee V, Hungerford JL, Bunce C, Ahmed F, Kingston JE, Plowman PN
Br J Ophthalmol 2003 Nov;87(11):1374-80. doi: 10.1136/bjo.87.11.1374. PMID: 14609838Free PMC Article
Peters' anomaly. A synopsis of surgical management and visual outcome.
Yang LL, Lambert SR
Ophthalmol Clin North Am 2001 Sep;14(3):467-77. doi: 10.1016/s0896-1549(05)70245-5. PMID: 11705147

Recent clinical studies

Etiology

Correlation among Lens Opacities Classification System III grading, the 25-item National Eye Institute Visual Functioning Questionnaire, and Visual Function Index-14 for age-related cataract assessment.
Wan Y, Wang Y, Zhao L, Sun M, An L, Yang Y, Jiang A, Xu Y, Chen Z, Li X
Int Ophthalmol 2020 Jul;40(7):1831-1839. Epub 2020 Apr 5 doi: 10.1007/s10792-020-01353-0. PMID: 32249376Free PMC Article
Antidepressants and risk of cataract development: A population-based, nested case-control study.
Chou PH, Chu CS, Chen YH, Hsu MY, Huang MW, Lan TH, Lin CH
J Affect Disord 2017 Jun;215:237-244. Epub 2017 Mar 18 doi: 10.1016/j.jad.2017.03.044. PMID: 28342338
ALG8-CDG: novel patients and review of the literature.
Höck M, Wegleiter K, Ralser E, Kiechl-Kohlendorfer U, Scholl-Bürgi S, Fauth C, Steichen E, Pichler K, Lefeber DJ, Matthjis G, Keldermans L, Maurer K, Zschocke J, Karall D
Orphanet J Rare Dis 2015 Jun 12;10:73. doi: 10.1186/s13023-015-0289-7. PMID: 26066342Free PMC Article
Defining the phenotype and diagnostic considerations in adults with congenital disorders of N-linked glycosylation.
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
Peters' anomaly. A synopsis of surgical management and visual outcome.
Yang LL, Lambert SR
Ophthalmol Clin North Am 2001 Sep;14(3):467-77. doi: 10.1016/s0896-1549(05)70245-5. PMID: 11705147

Diagnosis

Astigmatism profile in the elderly population: Tehran Geriatric Eye Study.
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
Long-term outcomes and risk factors for failure of glaucoma filtering surgery in eyes with vernal keratoconjunctivitis and steroid-induced glaucoma.
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
Correlation among Lens Opacities Classification System III grading, the 25-item National Eye Institute Visual Functioning Questionnaire, and Visual Function Index-14 for age-related cataract assessment.
Wan Y, Wang Y, Zhao L, Sun M, An L, Yang Y, Jiang A, Xu Y, Chen Z, Li X
Int Ophthalmol 2020 Jul;40(7):1831-1839. Epub 2020 Apr 5 doi: 10.1007/s10792-020-01353-0. PMID: 32249376Free PMC Article
ALG8-CDG: novel patients and review of the literature.
Höck M, Wegleiter K, Ralser E, Kiechl-Kohlendorfer U, Scholl-Bürgi S, Fauth C, Steichen E, Pichler K, Lefeber DJ, Matthjis G, Keldermans L, Maurer K, Zschocke J, Karall D
Orphanet J Rare Dis 2015 Jun 12;10:73. doi: 10.1186/s13023-015-0289-7. PMID: 26066342Free PMC Article
Defining the phenotype and diagnostic considerations in adults with congenital disorders of N-linked glycosylation.
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

Astigmatism profile in the elderly population: Tehran Geriatric Eye Study.
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
Antidepressants and risk of cataract development: A population-based, nested case-control study.
Chou PH, Chu CS, Chen YH, Hsu MY, Huang MW, Lan TH, Lin CH
J Affect Disord 2017 Jun;215:237-244. Epub 2017 Mar 18 doi: 10.1016/j.jad.2017.03.044. PMID: 28342338
Distinctive and pervasive alterations in aqueous humor protein composition following different types of glaucoma surgery.
Rosenfeld C, Price MO, Lai X, Witzmann FA, Price FW Jr
Mol Vis 2015;21:911-8. Epub 2015 Aug 25 PMID: 26321865Free PMC Article
Intraocular lenses, bacterial adhesion and endophthalmitis prevention: a review.
Kodjikian L, Burillon C, Roques C, Pellon G, Renaud FN, Hartmann D, Freney J
Biomed Mater Eng 2004;14(4):395-409. PMID: 15472388
Globe conserving treatment of the only eye in bilateral retinoblastoma.
Lee V, Hungerford JL, Bunce C, Ahmed F, Kingston JE, Plowman PN
Br J Ophthalmol 2003 Nov;87(11):1374-80. doi: 10.1136/bjo.87.11.1374. PMID: 14609838Free PMC Article

Prognosis

Correlation among Lens Opacities Classification System III grading, the 25-item National Eye Institute Visual Functioning Questionnaire, and Visual Function Index-14 for age-related cataract assessment.
Wan Y, Wang Y, Zhao L, Sun M, An L, Yang Y, Jiang A, Xu Y, Chen Z, Li X
Int Ophthalmol 2020 Jul;40(7):1831-1839. Epub 2020 Apr 5 doi: 10.1007/s10792-020-01353-0. PMID: 32249376Free PMC Article
Corneal Abnormalities in Congenital Aniridia: Congenital Central Corneal Opacity Versus Aniridia-associated Keratopathy.
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
ALG8-CDG: novel patients and review of the literature.
Höck M, Wegleiter K, Ralser E, Kiechl-Kohlendorfer U, Scholl-Bürgi S, Fauth C, Steichen E, Pichler K, Lefeber DJ, Matthjis G, Keldermans L, Maurer K, Zschocke J, Karall D
Orphanet J Rare Dis 2015 Jun 12;10:73. doi: 10.1186/s13023-015-0289-7. PMID: 26066342Free PMC Article
Globe conserving treatment of the only eye in bilateral retinoblastoma.
Lee V, Hungerford JL, Bunce C, Ahmed F, Kingston JE, Plowman PN
Br J Ophthalmol 2003 Nov;87(11):1374-80. doi: 10.1136/bjo.87.11.1374. PMID: 14609838Free PMC Article
Peters' anomaly. A synopsis of surgical management and visual outcome.
Yang LL, Lambert SR
Ophthalmol Clin North Am 2001 Sep;14(3):467-77. doi: 10.1016/s0896-1549(05)70245-5. PMID: 11705147

Clinical prediction guides

Correlation among Lens Opacities Classification System III grading, the 25-item National Eye Institute Visual Functioning Questionnaire, and Visual Function Index-14 for age-related cataract assessment.
Wan Y, Wang Y, Zhao L, Sun M, An L, Yang Y, Jiang A, Xu Y, Chen Z, Li X
Int Ophthalmol 2020 Jul;40(7):1831-1839. Epub 2020 Apr 5 doi: 10.1007/s10792-020-01353-0. PMID: 32249376Free PMC Article
Change in refraction after lens-sparing vitrectomy for rhegmatogenous retinal detachment and epiretinal membrane.
Iwase T, Yamamoto K, Yanagida K, Kobayashi M, Ra E, Murotani K, Terasaki H
Medicine (Baltimore) 2016 Aug;95(32):e4317. doi: 10.1097/MD.0000000000004317. PMID: 27512843Free PMC Article
Globe conserving treatment of the only eye in bilateral retinoblastoma.
Lee V, Hungerford JL, Bunce C, Ahmed F, Kingston JE, Plowman PN
Br J Ophthalmol 2003 Nov;87(11):1374-80. doi: 10.1136/bjo.87.11.1374. PMID: 14609838Free PMC Article

Recent systematic reviews

Defining the phenotype and diagnostic considerations in adults with congenital disorders of N-linked glycosylation.
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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      Clinical tests in GTR
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    • OMIM(Genes)
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