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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.

Recent clinical studies

Etiology

Boese EA, Drack AV, Roos BR, Alward WLM, Tollefson MR, Schnieders MJ, Scheetz TE, Boldt HC, Stone EM, Fingert JH
JAMA Ophthalmol 2023 Sep 1;141(9):872-879. doi: 10.1001/jamaophthalmol.2023.3535. PMID: 37589989Free PMC Article
Berry V, Fujinami K, Mochizuki K, Iwata T, Pontikos N, Quinlan RA, Michaelides M
Ophthalmic Genet 2022 Oct;43(5):622-626. Epub 2022 Jun 23 doi: 10.1080/13816810.2022.2090010. PMID: 35736209Free PMC Article
Ye Y, Wu M, Qiao Y, Xie T, Yu Y, Yao K
Ophthalmic Genet 2019 Oct;40(5):428-435. Epub 2019 Oct 16 doi: 10.1080/13816810.2019.1675179. PMID: 31618082
Sun M, Chen C, Hou S, Li X, Wang H, Zhou J, Chen X, Liu P, Kijlstra A, Lin S, Ye J
Hum Mutat 2019 Apr;40(4):380-391. Epub 2019 Jan 23 doi: 10.1002/humu.23696. PMID: 30585370
Zhu Y, Yu H, Wang W, Gong X, Yao K
PLoS One 2014;9(12):e115406. Epub 2014 Dec 17 doi: 10.1371/journal.pone.0115406. PMID: 25517998Free PMC Article

Diagnosis

Li S, Zhang J, Cao Y, You Y, Zhao X
BMC Med Genet 2019 Dec 16;20(1):196. doi: 10.1186/s12881-019-0933-5. PMID: 31842807Free PMC Article
Rao Y, Dong S, Li Z, Yang G, Peng C, Yan M, Zheng F
Mol Vis 2017;23:624-637. Epub 2017 Sep 1 PMID: 28928627Free PMC Article
Qin L, Guo L, Wang H, Li T, Lou G, Guo Q, Hou Q, Liu H, Liao S, Liu Z
Eur J Med Genet 2016 Sep;59(9):488-91. Epub 2016 Jul 22 doi: 10.1016/j.ejmg.2016.07.002. PMID: 27456987
Mackay DS, Bennett TM, Culican SM, Shiels A
Hum Genomics 2014 Nov 18;8(1):19. doi: 10.1186/s40246-014-0019-6. PMID: 25403472Free PMC Article
Chen JH, Qiu J, Chen H, Pang CP, Zhang M
Eye (Lond) 2014 Dec;28(12):1511-6. Epub 2014 Oct 10 doi: 10.1038/eye.2014.158. PMID: 25301372Free PMC Article

Therapy

Boese EA, Drack AV, Roos BR, Alward WLM, Tollefson MR, Schnieders MJ, Scheetz TE, Boldt HC, Stone EM, Fingert JH
JAMA Ophthalmol 2023 Sep 1;141(9):872-879. doi: 10.1001/jamaophthalmol.2023.3535. PMID: 37589989Free PMC Article

Prognosis

Guo R, Huang D, Ji J, Liu W
BMC Ophthalmol 2022 Apr 15;22(1):172. doi: 10.1186/s12886-022-02386-y. PMID: 35428228Free PMC Article
Berry V, Pontikos N, Dudakova L, Moore AT, Quinlan R, Liskova P, Michaelides M
Ophthalmic Genet 2020 Apr;41(2):131-134. Epub 2020 Mar 23 doi: 10.1080/13816810.2020.1737950. PMID: 32202185
Li S, Zhang J, Cao Y, You Y, Zhao X
BMC Med Genet 2019 Dec 16;20(1):196. doi: 10.1186/s12881-019-0933-5. PMID: 31842807Free PMC Article
Rao Y, Dong S, Li Z, Yang G, Peng C, Yan M, Zheng F
Mol Vis 2017;23:624-637. Epub 2017 Sep 1 PMID: 28928627Free PMC Article
Mackay DS, Bennett TM, Culican SM, Shiels A
Hum Genomics 2014 Nov 18;8(1):19. doi: 10.1186/s40246-014-0019-6. PMID: 25403472Free PMC Article

Clinical prediction guides

Boese EA, Drack AV, Roos BR, Alward WLM, Tollefson MR, Schnieders MJ, Scheetz TE, Boldt HC, Stone EM, Fingert JH
JAMA Ophthalmol 2023 Sep 1;141(9):872-879. doi: 10.1001/jamaophthalmol.2023.3535. PMID: 37589989Free PMC Article
Goyal S, Singh R, Singh JR, Vanita V
Mol Genet Genomics 2023 Nov;298(6):1279-1288. Epub 2023 Jul 17 doi: 10.1007/s00438-023-02053-x. PMID: 37458831
Guo R, Huang D, Ji J, Liu W
BMC Ophthalmol 2022 Apr 15;22(1):172. doi: 10.1186/s12886-022-02386-y. PMID: 35428228Free PMC Article
Berry V, Ionides A, Pontikos N, Moore AT, Quinlan RA, Michaelides M
Eye (Lond) 2022 Aug;36(8):1694-1701. Epub 2021 Aug 3 doi: 10.1038/s41433-021-01711-x. PMID: 34345029Free PMC Article
Li S, Zhang J, Cao Y, You Y, Zhao X
BMC Med Genet 2019 Dec 16;20(1):196. doi: 10.1186/s12881-019-0933-5. PMID: 31842807Free PMC Article

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