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Cataract 12 multiple types(CTRCT12)

MedGen UID:
814445
Concept ID:
C3808115
Disease or Syndrome
Synonyms: CATARACT 12, MULTIPLE TYPES; CTRCT12
 
Gene (location): BFSP2 (3q22.1)
 
Monarch Initiative: MONDO:0012701
OMIM®: 611597

Definition

Mutations in the BFSP2 gene have been found to cause multiple types of cataract, which have been described as juvenile-onset lamellar, cortical, nuclear embryonic; and congenital nuclear, sutural, stellate, Y-sutural, and punctate cortical. [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.
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.
Progressive cataract
MedGen UID:
867208
Concept ID:
C4021566
Disease or Syndrome
A kind of cataract that progresses with age.

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
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

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
Kim EJ, Sajjad A, Montes de Oca I, Koch DD, Wang L, Weikert MP, Al-Mohtaseb ZN
J Cataract Refract Surg 2017 Jun;43(6):761-766. doi: 10.1016/j.jcrs.2017.03.034. PMID: 28732609
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
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
Hodge WG, Whitcher JP, Satariano W
Epidemiol Rev 1995;17(2):336-46. doi: 10.1093/oxfordjournals.epirev.a036197. PMID: 8654515

Diagnosis

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
Kim EJ, Sajjad A, Montes de Oca I, Koch DD, Wang L, Weikert MP, Al-Mohtaseb ZN
J Cataract Refract Surg 2017 Jun;43(6):761-766. doi: 10.1016/j.jcrs.2017.03.034. PMID: 28732609
Ni W, Li X, Hou Z, Zhang H, Qiu W, Wang W
Eye (Lond) 2015 Dec;29(12):1545-54. Epub 2015 Aug 14 doi: 10.1038/eye.2015.147. PMID: 26272444Free PMC Article
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
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

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
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
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
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
Hodge WG, Whitcher JP, Satariano W
Epidemiol Rev 1995;17(2):336-46. doi: 10.1093/oxfordjournals.epirev.a036197. PMID: 8654515

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
Kim EJ, Sajjad A, Montes de Oca I, Koch DD, Wang L, Weikert MP, Al-Mohtaseb ZN
J Cataract Refract Surg 2017 Jun;43(6):761-766. doi: 10.1016/j.jcrs.2017.03.034. PMID: 28732609
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
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
Hodge WG, Whitcher JP, Satariano W
Epidemiol Rev 1995;17(2):336-46. doi: 10.1093/oxfordjournals.epirev.a036197. PMID: 8654515

Clinical prediction guides

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
Kim EJ, Sajjad A, Montes de Oca I, Koch DD, Wang L, Weikert MP, Al-Mohtaseb ZN
J Cataract Refract Surg 2017 Jun;43(6):761-766. doi: 10.1016/j.jcrs.2017.03.034. PMID: 28732609
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
Ni W, Li X, Hou Z, Zhang H, Qiu W, Wang W
Eye (Lond) 2015 Dec;29(12):1545-54. Epub 2015 Aug 14 doi: 10.1038/eye.2015.147. PMID: 26272444Free PMC Article
Hodge WG, Whitcher JP, Satariano W
Epidemiol Rev 1995;17(2):336-46. doi: 10.1093/oxfordjournals.epirev.a036197. PMID: 8654515

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