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Cataract 2, multiple types(CTRCT2)

MedGen UID:
1648415
Concept ID:
C4721890
Disease or Syndrome
Synonyms: CATARACT 2, MULTIPLE TYPES, WITH OR WITHOUT MICROCORNEA; CATARACT 2, NUCLEAR; CATARACT 2, NUCLEAR, WITH MICROCORNEA; CATARACT 2, ZONULAR PULVERULENT; Cataract, Coppock-like; CTRCT2
 
Gene (location): CRYGC (2q33.3)
 
Monarch Initiative: MONDO:0100436
OMIM®: 604307

Definition

Mutations in the CRYGC gene have been found to cause several types of cataract, which have been described as Coppock-like; embryonic, fetal, infantile nuclear; zonular pulverulent; and lamellar. Some patients also exhibit microcornea. Before it was known that mutations in the CRYGC gene cause several types of cataract, this entry was titled 'Cataract, Coppock-like,' with the symbol CCL. [from OMIM]

Clinical features

From HPO
Photophobia
MedGen UID:
43220
Concept ID:
C0085636
Sign or Symptom
Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light.
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.
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.
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.
Nuclear cataract
MedGen UID:
140274
Concept ID:
C0392557
Finding
A nuclear cataract is an opacity or clouding that develops in the lens nucleus. That is, a nuclear cataract is one that is located in the center of the lens. The nucleus tends to darken changing from clear to yellow and sometimes brown.
Nuclear pulverulent cataract
MedGen UID:
343810
Concept ID:
C1852438
Disease or Syndrome
A type of nuclear cataract involving congenital dust-like (pulverulent) opacity of the embryonal and fetal nucleus.
Aculeiform cataract
MedGen UID:
348463
Concept ID:
C1861832
Finding
A kind of nuclear cataract characterized by fiberglasslike or needlelike crystals projecting in different directions, through or close to the axial region of the lens.
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.

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
Yang LL, Lambert SR
Ophthalmol Clin North Am 2001 Sep;14(3):467-77. doi: 10.1016/s0896-1549(05)70245-5. PMID: 11705147

Recent clinical studies

Etiology

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
Chee SP, Chan NS, Yang Y, Ti SE
Br J Ophthalmol 2019 Apr;103(4):544-550. Epub 2018 Jun 15 doi: 10.1136/bjophthalmol-2018-312289. PMID: 29907631
Wolthuis DF, Janssen MC, Cassiman D, Lefeber DJ, Morava E
Expert Rev Mol Diagn 2014 Mar;14(2):217-24. Epub 2014 Feb 13 doi: 10.1586/14737159.2014.890052. PMID: 24524732
Theodoropoulou S, Samoli E, Theodossiadis PG, Papathanassiou M, Lagiou A, Lagiou P, Tzonou A
Int Ophthalmol 2014 Feb;34(1):59-68. Epub 2013 May 29 doi: 10.1007/s10792-013-9795-6. PMID: 23715849
Lu-Emerson C, Plotkin SR
Rev Neurol Dis 2009 Summer;6(3):E81-6. PMID: 19898272

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
Chee SP, Chan NS, Yang Y, Ti SE
Br J Ophthalmol 2019 Apr;103(4):544-550. Epub 2018 Jun 15 doi: 10.1136/bjophthalmol-2018-312289. PMID: 29907631
Plana-Pla A, Bielsa-Marsol I, Carrato-Moñino C; en representación del grupo de Centros, Servicios y Unidades de Referencia (CSUR) en Factomatosis
Actas Dermosifiliogr 2017 Sep;108(7):630-636. Epub 2017 Feb 22 doi: 10.1016/j.ad.2016.12.007. PMID: 28237041
Wolthuis DF, Janssen MC, Cassiman D, Lefeber DJ, Morava E
Expert Rev Mol Diagn 2014 Mar;14(2):217-24. Epub 2014 Feb 13 doi: 10.1586/14737159.2014.890052. PMID: 24524732
Lu-Emerson C, Plotkin SR
Rev Neurol Dis 2009 Summer;6(3):E81-6. PMID: 19898272

Therapy

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
Theodoropoulou S, Samoli E, Theodossiadis PG, Papathanassiou M, Lagiou A, Lagiou P, Tzonou A
Int Ophthalmol 2014 Feb;34(1):59-68. Epub 2013 May 29 doi: 10.1007/s10792-013-9795-6. PMID: 23715849
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
Eshagian J, Rafferty NS, Goossens W
Ophthalmology 1981 Feb;88(2):155-63. doi: 10.1016/s0161-6420(81)35059-3. PMID: 7231901

Prognosis

Wenninger S, Stahl K, Montagnese F, Schoser B
Eur Neurol 2020;83(5):523-533. Epub 2020 Oct 29 doi: 10.1159/000511237. PMID: 33120389
Chee SP, Chan NS, Yang Y, Ti SE
Br J Ophthalmol 2019 Apr;103(4):544-550. Epub 2018 Jun 15 doi: 10.1136/bjophthalmol-2018-312289. PMID: 29907631
Lee HK, Kim MK, Oh JY
Am J Ophthalmol 2018 Jan;185:75-80. Epub 2017 Oct 31 doi: 10.1016/j.ajo.2017.10.017. PMID: 29101006
Plana-Pla A, Bielsa-Marsol I, Carrato-Moñino C; en representación del grupo de Centros, Servicios y Unidades de Referencia (CSUR) en Factomatosis
Actas Dermosifiliogr 2017 Sep;108(7):630-636. Epub 2017 Feb 22 doi: 10.1016/j.ad.2016.12.007. PMID: 28237041
Norval M, Lucas RM, Cullen AP, de Gruijl FR, Longstreth J, Takizawa Y, van der Leun JC
Photochem Photobiol Sci 2011 Feb;10(2):199-225. Epub 2011 Jan 20 doi: 10.1039/c0pp90044c. PMID: 21253670

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
Chee SP, Chan NS, Yang Y, Ti SE
Br J Ophthalmol 2019 Apr;103(4):544-550. Epub 2018 Jun 15 doi: 10.1136/bjophthalmol-2018-312289. PMID: 29907631
Norval M, Lucas RM, Cullen AP, de Gruijl FR, Longstreth J, Takizawa Y, van der Leun JC
Photochem Photobiol Sci 2011 Feb;10(2):199-225. Epub 2011 Jan 20 doi: 10.1039/c0pp90044c. PMID: 21253670
Hodge WG, Whitcher JP, Satariano W
Epidemiol Rev 1995;17(2):336-46. doi: 10.1093/oxfordjournals.epirev.a036197. PMID: 8654515
Eshagian J, Rafferty NS, Goossens W
Ophthalmology 1981 Feb;88(2):155-63. doi: 10.1016/s0161-6420(81)35059-3. PMID: 7231901

Recent systematic reviews

Wolthuis DF, Janssen MC, Cassiman D, Lefeber DJ, Morava E
Expert Rev Mol Diagn 2014 Mar;14(2):217-24. Epub 2014 Feb 13 doi: 10.1586/14737159.2014.890052. PMID: 24524732
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

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