U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Cataract 9 multiple types(CTRCT9)

MedGen UID:
347693
Concept ID:
C1858679
Disease or Syndrome
Synonyms: Cataract 9, multiple types, with or without microcornea; Cataract, autosomal recessive congenital 1
 
Gene (location): CRYAA (21q22.3)
 
Monarch Initiative: MONDO:0011413
OMIM®: 604219

Definition

Mutations in the CRYAA gene have been found to cause multiple types of cataract, which have been described as nuclear, zonular central nuclear, laminar, lamellar, anterior polar, posterior polar, cortical, embryonal, anterior subcapsular, fan-shaped, and total. Cataract associated with microcornea, sometimes called the cataract-microcornea syndrome, is also caused by mutation in the CRYAA gene. Both autosomal dominant and autosomal recessive modes of inheritance have been reported. The symbol CATC1 was formerly used for the autosomal recessive form of cataract caused by mutation in the CRYAA gene. [from OMIM]

Clinical features

From HPO
Amblyopia
MedGen UID:
8009
Concept ID:
C0002418
Disease or Syndrome
Reduced visual acuity that is uncorrectable by lenses in the absence of detectable anatomic defects in the eye or visual pathways.
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.
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.
Nystagmus
MedGen UID:
45166
Concept ID:
C0028738
Disease or Syndrome
Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.
Strabismus
MedGen UID:
21337
Concept ID:
C0038379
Disease or Syndrome
A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.
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.
Iris coloboma
MedGen UID:
116097
Concept ID:
C0240063
Anatomical Abnormality
A coloboma of the iris.
Microcornea
MedGen UID:
78610
Concept ID:
C0266544
Congenital Abnormality
A congenital abnormality of the cornea in which the cornea and the anterior segment of the eye are smaller than normal. The horizontal diameter of the cornea does not reach 10 mm even in adulthood.
Visual impairment
MedGen UID:
777085
Concept ID:
C3665347
Finding
Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery.
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
Kim EJ, Lin WV, Rodriguez SM, Chen A, Loya A, Weng CY
Curr Diab Rep 2019 Jul 29;19(9):68. doi: 10.1007/s11892-019-1188-4. PMID: 31359157
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

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
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
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
Calladine D, Evans JR, Shah S, Leyland M
Cochrane Database Syst Rev 2012 Sep 12;(9):CD003169. doi: 10.1002/14651858.CD003169.pub3. PMID: 22972061

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, Lin WV, Rodriguez SM, Chen A, Loya A, Weng CY
Curr Diab Rep 2019 Jul 29;19(9):68. doi: 10.1007/s11892-019-1188-4. PMID: 31359157
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
Calladine D, Evans JR, Shah S, Leyland M
Cochrane Database Syst Rev 2012 Sep 12;(9):CD003169. doi: 10.1002/14651858.CD003169.pub3. PMID: 22972061

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
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
Kim EJ, Lin WV, Rodriguez SM, Chen A, Loya A, Weng CY
Curr Diab Rep 2019 Jul 29;19(9):68. doi: 10.1007/s11892-019-1188-4. PMID: 31359157
Calladine D, Evans JR, Shah S, Leyland M
Cochrane Database Syst Rev 2012 Sep 12;(9):CD003169. doi: 10.1002/14651858.CD003169.pub3. PMID: 22972061

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
Khan S, Finger PT, Yu GP, Razzaq L, Jager MJ, de Keizer RJ, Sandkull P, Seregard S, Gologorsky D, Schefler AC, Murray TG, Kivelä T, Giuliari GP, McGowan H, Simpson ER, Corriveau C, Coupland SE, Damato BE
Arch Ophthalmol 2012 Jan;130(1):57-64. Epub 2011 Sep 12 doi: 10.1001/archophthalmol.2011.286. PMID: 21911649
Hertle RW, Yang D, Tai Z, Carey K, Mitchell E
Binocul Vis Strabismus Q 2010;25(2):72-93. PMID: 20608897

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
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
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

Calladine D, Evans JR, Shah S, Leyland M
Cochrane Database Syst Rev 2012 Sep 12;(9):CD003169. doi: 10.1002/14651858.CD003169.pub3. PMID: 22972061

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...