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Cataract 42(CTRCT42)

MedGen UID:
859891
Concept ID:
C4011454
Disease or Syndrome
Synonyms: Cataract, floriform; CTRCT42
 
Gene (location): CRYBA2 (2q35)
 
Monarch Initiative: MONDO:0007283
OMIM®: 115900

Definition

Cataract-42 (CTRCT42) is characterized by mostly congenital cataract, with glaucoma and/or myopia also present in some affected individuals (Reis et al., 2013). [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.
Glaucoma
MedGen UID:
42224
Concept ID:
C0017601
Disease or Syndrome
Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure.
Myopia
MedGen UID:
44558
Concept ID:
C0027092
Disease or Syndrome
Nearsightedness, also known as myopia, is an eye condition that causes blurry distance vision. People who are nearsighted have more trouble seeing things that are far away (such as when driving) than things that are close up (such as when reading or using a computer). If it is not treated with corrective lenses or surgery, nearsightedness can lead to squinting, eyestrain, headaches, and significant visual impairment.\n\nNearsightedness usually begins in childhood or adolescence. It tends to worsen with age until adulthood, when it may stop getting worse (stabilize). In some people, nearsightedness improves in later adulthood.\n\nFor normal vision, light passes through the clear cornea at the front of the eye and is focused by the lens onto the surface of the retina, which is the lining of the back of the eye that contains light-sensing cells. People who are nearsighted typically have eyeballs that are too long from front to back. As a result, light entering the eye is focused too far forward, in front of the retina instead of on its surface. It is this change that causes distant objects to appear blurry. The longer the eyeball is, the farther forward light rays will be focused and the more severely nearsighted a person will be.\n\nNearsightedness is measured by how powerful a lens must be to correct it. The standard unit of lens power is called a diopter. Negative (minus) powered lenses are used to correct nearsightedness. The more severe a person's nearsightedness, the larger the number of diopters required for correction. In an individual with nearsightedness, one eye may be more nearsighted than the other.\n\nEye doctors often refer to nearsightedness less than -5 or -6 diopters as "common myopia." Nearsightedness of -6 diopters or more is commonly called "high myopia." This distinction is important because high myopia increases a person's risk of developing other eye problems that can lead to permanent vision loss or blindness. These problems include tearing and detachment of the retina, clouding of the lens (cataract), and an eye disease called glaucoma that is usually related to increased pressure within the eye. The risk of these other eye problems increases with the severity of the nearsightedness. The term "pathological myopia" is used to describe cases in which high myopia leads to tissue damage within the eye.
Cataract
MedGen UID:
39462
Concept ID:
C0086543
Disease or Syndrome
A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.

Professional guidelines

PubMed

Molimard J, Pajot C, Olle P, Belot A, Quartier P, Uettwiller F, Couret C, Coste V, Costet C, Bodaghi B, Dureau P, Bailhache M, Pillet P
Pediatr Rheumatol Online J 2021 Sep 3;19(1):139. doi: 10.1186/s12969-021-00626-x. PMID: 34479590Free PMC Article

Recent clinical studies

Etiology

March de Ribot F, de Ribot AM, Walker X, Jamieson H, Cheung G
Australas J Ageing 2023 Sep;42(3):450-454. Epub 2023 May 1 doi: 10.1111/ajag.13208. PMID: 37127536
Man S, Chen B, Zhang Y, Xu H, Liu Y, Gao Y, Chen Y, Chen Q, Zhang M
J Alzheimers Dis 2023;92(4):1451-1458. doi: 10.3233/JAD-221137. PMID: 36911941
Song P, Wang H, Theodoratou E, Chan KY, Rudan I
J Glob Health 2018 Jun;8(1):010804. doi: 10.7189/jogh.08.010804. PMID: 29977532Free PMC Article
Thompson J, Lakhani N
Prim Care 2015 Sep;42(3):409-23. doi: 10.1016/j.pop.2015.05.012. PMID: 26319346
Song E, Sun H, Xu Y, Ma Y, Zhu H, Pan CW
PLoS One 2014;9(11):e112054. Epub 2014 Nov 4 doi: 10.1371/journal.pone.0112054. PMID: 25369040Free PMC Article

Diagnosis

Mirzayev I, Gündüz AK, Aydın Ellialtıoğlu P, Gündüz ÖÖ
Photodiagnosis Photodyn Ther 2023 Jun;42:103334. Epub 2023 Feb 9 doi: 10.1016/j.pdpdt.2023.103334. PMID: 36764640
Zhang H, Gong R, Zhang X, Deng Y
Int Ophthalmol 2022 Nov;42(11):3625-3641. Epub 2022 Jun 22 doi: 10.1007/s10792-022-02355-w. PMID: 35731355Free PMC Article
Arriola-Villalobos P, Moll-Udina A, Carrasco-López-Brea M, Sacristan C, Capella MJ, Peiteado D, Garrote-Llordén A, Albert Fort M, Jódar Márquez M, Jacobo Gonzalez Guijarro J, Demetrio-Pablo R, Luis Sánchez Sevilla J, Carreño E, González-López J, Miguel-Escuder L, Cuadros C, Díaz-Valle D, Adan A; Contributors: VKH Spanish Study Group, Benítez Del Castillo JM, Fonollosa A, Cordero M, Martínez Costa L, Blanco-Alonso R
Eur J Ophthalmol 2022 May;32(3):1547-1554. Epub 2021 Jul 16 doi: 10.1177/11206721211033477. PMID: 34269103
Maswadi R, Bascaran C, Clare G, Ramadan MA, Al Talbishi A, Foster A
Ophthalmic Epidemiol 2022 Apr;29(2):223-231. Epub 2021 Jun 13 doi: 10.1080/09286586.2021.1923755. PMID: 34121602
Thompson J, Lakhani N
Prim Care 2015 Sep;42(3):409-23. doi: 10.1016/j.pop.2015.05.012. PMID: 26319346

Therapy

Vergroesen JE, Thee EF, de Crom TOE, Kiefte-de Jong JC, Meester-Smoor MA, Voortman T, Klaver CCW, Ramdas WD
Clin Nutr 2023 Dec;42(12):2404-2413. Epub 2023 Oct 12 doi: 10.1016/j.clnu.2023.10.008. PMID: 37865012
Man S, Chen B, Zhang Y, Xu H, Liu Y, Gao Y, Chen Y, Chen Q, Zhang M
J Alzheimers Dis 2023;92(4):1451-1458. doi: 10.3233/JAD-221137. PMID: 36911941
Liu SH, Saldanha IJ, Abraham AG, Rittiphairoj T, Hauswirth S, Gregory D, Ifantides C, Li T
Cochrane Database Syst Rev 2022 Oct 21;10(10):CD015070. doi: 10.1002/14651858.CD015070.pub2. PMID: 36269562Free PMC Article
Zhang H, Gong R, Zhang X, Deng Y
Int Ophthalmol 2022 Nov;42(11):3625-3641. Epub 2022 Jun 22 doi: 10.1007/s10792-022-02355-w. PMID: 35731355Free PMC Article
Song E, Sun H, Xu Y, Ma Y, Zhu H, Pan CW
PLoS One 2014;9(11):e112054. Epub 2014 Nov 4 doi: 10.1371/journal.pone.0112054. PMID: 25369040Free PMC Article

Prognosis

Vergroesen JE, Thee EF, de Crom TOE, Kiefte-de Jong JC, Meester-Smoor MA, Voortman T, Klaver CCW, Ramdas WD
Clin Nutr 2023 Dec;42(12):2404-2413. Epub 2023 Oct 12 doi: 10.1016/j.clnu.2023.10.008. PMID: 37865012
Zhang H, Gong R, Zhang X, Deng Y
Int Ophthalmol 2022 Nov;42(11):3625-3641. Epub 2022 Jun 22 doi: 10.1007/s10792-022-02355-w. PMID: 35731355Free PMC Article
Arriola-Villalobos P, Moll-Udina A, Carrasco-López-Brea M, Sacristan C, Capella MJ, Peiteado D, Garrote-Llordén A, Albert Fort M, Jódar Márquez M, Jacobo Gonzalez Guijarro J, Demetrio-Pablo R, Luis Sánchez Sevilla J, Carreño E, González-López J, Miguel-Escuder L, Cuadros C, Díaz-Valle D, Adan A; Contributors: VKH Spanish Study Group, Benítez Del Castillo JM, Fonollosa A, Cordero M, Martínez Costa L, Blanco-Alonso R
Eur J Ophthalmol 2022 May;32(3):1547-1554. Epub 2021 Jul 16 doi: 10.1177/11206721211033477. PMID: 34269103
Bullimore MA, Ritchey ER, Shah S, Leveziel N, Bourne RRA, Flitcroft DI
Ophthalmology 2021 Nov;128(11):1561-1579. Epub 2021 May 4 doi: 10.1016/j.ophtha.2021.04.032. PMID: 33961969
Kasturi S, Sammaritano LR
Rheum Dis Clin North Am 2016 Feb;42(1):47-62, viii. doi: 10.1016/j.rdc.2015.08.007. PMID: 26611550

Clinical prediction guides

Man S, Chen B, Zhang Y, Xu H, Liu Y, Gao Y, Chen Y, Chen Q, Zhang M
J Alzheimers Dis 2023;92(4):1451-1458. doi: 10.3233/JAD-221137. PMID: 36911941
Bali J, Bali O, Sahu A, Boramani J, Deori N
Indian J Ophthalmol 2022 Nov;70(11):3765-3770. doi: 10.4103/ijo.IJO_1266_22. PMID: 36308093Free PMC Article
Liu SH, Saldanha IJ, Abraham AG, Rittiphairoj T, Hauswirth S, Gregory D, Ifantides C, Li T
Cochrane Database Syst Rev 2022 Oct 21;10(10):CD015070. doi: 10.1002/14651858.CD015070.pub2. PMID: 36269562Free PMC Article
Zhang H, Gong R, Zhang X, Deng Y
Int Ophthalmol 2022 Nov;42(11):3625-3641. Epub 2022 Jun 22 doi: 10.1007/s10792-022-02355-w. PMID: 35731355Free PMC Article
Khokhar S, Jose CP, Sihota R, Midha N
J Pediatr Ophthalmol Strabismus 2018 Mar 1;55(2):107-112. Epub 2017 Nov 14 doi: 10.3928/01913913-20170703-11. PMID: 29131913

Recent systematic reviews

Bali J, Bali O, Sahu A, Boramani J, Deori N
Indian J Ophthalmol 2022 Nov;70(11):3765-3770. doi: 10.4103/ijo.IJO_1266_22. PMID: 36308093Free PMC Article
Liu SH, Saldanha IJ, Abraham AG, Rittiphairoj T, Hauswirth S, Gregory D, Ifantides C, Li T
Cochrane Database Syst Rev 2022 Oct 21;10(10):CD015070. doi: 10.1002/14651858.CD015070.pub2. PMID: 36269562Free PMC Article
Dammacco R, Guerriero S, Alessio G, Dammacco F
Int Ophthalmol 2022 Feb;42(2):689-711. Epub 2021 Nov 21 doi: 10.1007/s10792-021-02058-8. PMID: 34802085Free PMC Article
Song E, Sun H, Xu Y, Ma Y, Zhu H, Pan CW
PLoS One 2014;9(11):e112054. Epub 2014 Nov 4 doi: 10.1371/journal.pone.0112054. PMID: 25369040Free PMC Article
Gillespie LD, Robertson MC, Gillespie WJ, Sherrington C, Gates S, Clemson LM, Lamb SE
Cochrane Database Syst Rev 2012 Sep 12;2012(9):CD007146. doi: 10.1002/14651858.CD007146.pub3. PMID: 22972103Free PMC Article

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