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Cataract 15 multiple types(CTRCT15)

MedGen UID:
815331
Concept ID:
C3809001
Disease or Syndrome
Synonym: CATARACT 15, LAMELLAR WITH SUTURAL OPACITIES
 
Gene (location): MIP (12q13.3)
 
Monarch Initiative: MONDO:0014110
OMIM®: 615274

Definition

Mutations in the MIP gene have been found to cause multiple types of cataract, which have been described as 'polymorphic,' progressive punctate lamellar, cortical, anterior and posterior polar, nonprogressive lamellar with sutural opacities, embryonic nuclear, and pulverulent cortical. [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.

Professional guidelines

PubMed

Leonardi A, Tavolato M, Curnow SJ, Fregona IA, Violato D, Alió JL
J Cataract Refract Surg 2009 Feb;35(2):240-7. doi: 10.1016/j.jcrs.2008.10.030. PMID: 19185237
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 clinical studies

Etiology

Fan H, Han X, Shang X, Zhu Z, He M, Xu G, Chen Z, Deng R
Eye (Lond) 2023 Oct;37(15):3234-3242. Epub 2023 Mar 27 doi: 10.1038/s41433-023-02498-9. PMID: 36973404Free PMC Article
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
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
Ferrigno L, Aldigeri R, Rosmini F, Sperduto RD, Maraini G; Italian-American Cataract Study Group
Ophthalmic Epidemiol 2005 Apr;12(2):71-80. doi: 10.1080/09286580590932815. PMID: 16019690

Diagnosis

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
Heatwole C, Johnson N, Goldberg B, Martens W, Moxley R 3rd
Arch Neurol 2011 Sep;68(9):1180-4. doi: 10.1001/archneurol.2011.191. PMID: 21911698Free PMC Article
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
Evert J, Lawler E, Bogan H, Perls T
J Gerontol A Biol Sci Med Sci 2003 Mar;58(3):232-7. doi: 10.1093/gerona/58.3.m232. PMID: 12634289

Therapy

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
Leonardi A, Tavolato M, Curnow SJ, Fregona IA, Violato D, Alió JL
J Cataract Refract Surg 2009 Feb;35(2):240-7. doi: 10.1016/j.jcrs.2008.10.030. PMID: 19185237
Ferrigno L, Aldigeri R, Rosmini F, Sperduto RD, Maraini G; Italian-American Cataract Study Group
Ophthalmic Epidemiol 2005 Apr;12(2):71-80. doi: 10.1080/09286580590932815. PMID: 16019690
Meier FM, Tuft SJ, Pavésio CE
Ophthalmol Clin North Am 2002 Sep;15(3):365-73. doi: 10.1016/s0896-1549(02)00033-0. PMID: 12434486

Prognosis

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
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
Evert J, Lawler E, Bogan H, Perls T
J Gerontol A Biol Sci Med Sci 2003 Mar;58(3):232-7. doi: 10.1093/gerona/58.3.m232. PMID: 12634289
Young TL, Bloom JN, Ruttum M, Sprunger DT, Weinstein JM
J AAPOS 1999 Oct;3(5):295-302. doi: 10.1016/s1091-8531(99)70026-1. PMID: 10532575

Clinical prediction guides

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
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
Evert J, Lawler E, Bogan H, Perls T
J Gerontol A Biol Sci Med Sci 2003 Mar;58(3):232-7. doi: 10.1093/gerona/58.3.m232. PMID: 12634289

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