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Cataract 11 multiple types(CTPP4; CTRCT11)

MedGen UID:
351162
Concept ID:
C1864567
Disease or Syndrome
Synonyms: Cataract 11; Cataract, posterior polar, 4
 
Gene (location): PITX3 (10q24.32)
 
Monarch Initiative: MONDO:0012527
OMIM®: 610623

Definition

Mutations in the PITX3 gene have been found to cause multiple types of cataract, which have been described as congenital total and posterior polar. The preferred title/symbol for this entry was formerly 'Cataract, Posterior Polar, 4; CTPP4.' [from OMIM]

Clinical features

From HPO
Chorea
MedGen UID:
3420
Concept ID:
C0008489
Disease or Syndrome
Chorea (Greek for 'dance') refers to widespread arrhythmic involuntary movements of a forcible, jerky and restless fashion. It is a random-appearing sequence of one or more discrete involuntary movements or movement fragments. Movements appear random because of variability in timing, duration or location. Each movement may have a distinct start and end. However, movements may be strung together and thus may appear to flow randomly from one muscle group to another. Chorea can involve the trunk, neck, face, tongue, and extremities.
Reduced tendon reflexes
MedGen UID:
356648
Concept ID:
C1866934
Finding
Diminution of tendon reflexes, which is an invariable sign of peripheral nerve disease.
Intellectual disability
MedGen UID:
811461
Concept ID:
C3714756
Mental or Behavioral Dysfunction
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
Hypertonia
MedGen UID:
10132
Concept ID:
C0026826
Finding
A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move.
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.
Microphthalmia
MedGen UID:
10033
Concept ID:
C0026010
Congenital Abnormality
Microphthalmia is an eye abnormality that arises before birth. In this condition, one or both eyeballs are abnormally small. In some affected individuals, the eyeball may appear to be completely missing; however, even in these cases some remaining eye tissue is generally present. Such severe microphthalmia should be distinguished from another condition called anophthalmia, in which no eyeball forms at all. However, the terms anophthalmia and severe microphthalmia are often used interchangeably. Microphthalmia may or may not result in significant vision loss.\n\nPeople with microphthalmia may also have a condition called coloboma. Colobomas are missing pieces of tissue in structures that form the eye. They may appear as notches or gaps in the colored part of the eye called the iris; the retina, which is the specialized light-sensitive tissue that lines the back of the eye; the blood vessel layer under the retina called the choroid; or in the optic nerves, which carry information from the eyes to the brain. Colobomas may be present in one or both eyes and, depending on their size and location, can affect a person's vision.\n\nPeople with microphthalmia may also have other eye abnormalities, including clouding of the lens of the eye (cataract) and a narrowed opening of the eye (narrowed palpebral fissure). Additionally, affected individuals may have an abnormality called microcornea, in which the clear front covering of the eye (cornea) is small and abnormally curved.\n\nBetween one-third and one-half of affected individuals have microphthalmia as part of a syndrome that affects other organs and tissues in the body. These forms of the condition are described as syndromic. When microphthalmia occurs by itself, it is described as nonsyndromic or isolated.
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.
Blindness
MedGen UID:
99138
Concept ID:
C0456909
Disease or Syndrome
Blindness is the condition of lacking visual perception defined as a profound reduction in visual perception. On the 6m visual acuity scale, blindness is defined as less than 3/60. On the 20ft visual acuity scale, blindness is defined as less than 20/400. On the decimal visual acuity scale, blindness is defined as less than 0.05. Blindness is typically characterized by a visual field of no greater than 10 degrees in radius around central fixation.

Professional guidelines

PubMed

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

Sugihara K, Fukuda H, Omura T, Tanito M
BMC Ophthalmol 2022 Mar 30;22(1):145. doi: 10.1186/s12886-022-02369-z. PMID: 35354394Free 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
Hodge WG, Whitcher JP, Satariano W
Epidemiol Rev 1995;17(2):336-46. doi: 10.1093/oxfordjournals.epirev.a036197. PMID: 8654515
Chung CS, Myrianthopoulos NC
Birth Defects Orig Artic Ser 1975;11(10):1-22. PMID: 130944

Diagnosis

Sugihara K, Fukuda H, Omura T, Tanito M
BMC Ophthalmol 2022 Mar 30;22(1):145. doi: 10.1186/s12886-022-02369-z. PMID: 35354394Free PMC Article
Tsai LT, Liao KM, Jang Y, Hu FC, Wu WC
PLoS One 2016;11(9):e0162383. Epub 2016 Sep 9 doi: 10.1371/journal.pone.0162383. PMID: 27611680Free 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
Ni W, Li X, Ao M, Zhang H, Hou Z, Si S, Wang W
Eye (Lond) 2012 Nov;26(11):1402-11. Epub 2012 Aug 10 doi: 10.1038/eye.2012.168. PMID: 22878441Free 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

Therapy

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
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
Foster PJ, Wong TY, Machin D, Johnson GJ, Seah SK
Br J Ophthalmol 2003 Sep;87(9):1112-20. doi: 10.1136/bjo.87.9.1112. PMID: 12928278Free PMC Article
Hodge WG, Whitcher JP, Satariano W
Epidemiol Rev 1995;17(2):336-46. doi: 10.1093/oxfordjournals.epirev.a036197. PMID: 8654515
Bass EB, Steinberg EP, Luthra R, Schein OD, Tielsch JM, Javitt JC, Sharkey PD, Petty BG, Feldman MA, Steinwachs DM
Arch Ophthalmol 1995 Oct;113(10):1248-56. doi: 10.1001/archopht.1995.01100100036025. PMID: 7575255

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
Ni W, Li X, Ao M, Zhang H, Hou Z, Si S, Wang W
Eye (Lond) 2012 Nov;26(11):1402-11. Epub 2012 Aug 10 doi: 10.1038/eye.2012.168. PMID: 22878441Free PMC Article
Hertle RW, Yang D, Tai Z, Carey K, Mitchell E
Binocul Vis Strabismus Q 2010;25(2):72-93. PMID: 20608897
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
Hodge WG, Whitcher JP, Satariano W
Epidemiol Rev 1995;17(2):336-46. doi: 10.1093/oxfordjournals.epirev.a036197. PMID: 8654515

Clinical prediction guides

Tsai LT, Liao KM, Jang Y, Hu FC, Wu WC
PLoS One 2016;11(9):e0162383. Epub 2016 Sep 9 doi: 10.1371/journal.pone.0162383. PMID: 27611680Free PMC Article
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, Ao M, Zhang H, Hou Z, Si S, Wang W
Eye (Lond) 2012 Nov;26(11):1402-11. Epub 2012 Aug 10 doi: 10.1038/eye.2012.168. PMID: 22878441Free 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
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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