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Cataract 50 with or without glaucoma(CTRCT50)

MedGen UID:
1840935
Concept ID:
C5830299
Disease or Syndrome
Synonym: CTRCT50
 
Gene (location): TRPM3 (9q21.12-21.13)
 
Monarch Initiative: MONDO:0859382
OMIM®: 620253

Definition

CTRCT50 is characterized by pediatric or early-onset cataract, with more than half of affected individuals exhibiting high-tension glaucoma. Variable anterior segment defects have also been reported (Bennett et al., 2014). [from OMIM]

Clinical features

From HPO
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.
Retinal detachment
MedGen UID:
19759
Concept ID:
C0035305
Disease or Syndrome
Primary or spontaneous detachment of the retina occurs due to underlying ocular disease and often involves the vitreous as well as the retina. The precipitating event is formation of a retinal tear or hole, which permits fluid to accumulate under the sensory layers of the retina and creates an intraretinal cleavage that destroys the neurosensory process of visual reception. Vitreoretinal degeneration and tear formation are painless phenomena, and in most cases, significant vitreoretinal pathology is found only after detachment of the retina starts to cause loss of vision or visual field. Without surgical intervention, retinal detachment will almost inevitably lead to total blindness (summary by McNiel and McPherson, 1971).
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.
Persistent pupillary membrane
MedGen UID:
138009
Concept ID:
C0344541
Congenital Abnormality
The presence of remnants of a fetal membrane that persist as strands of tissue crossing the pupil.

Professional guidelines

PubMed

Stein JD, Khawaja AP, Weizer JS
JAMA 2021 Jan 12;325(2):164-174. doi: 10.1001/jama.2020.21899. PMID: 33433580
Schuster AK, Erb C, Hoffmann EM, Dietlein T, Pfeiffer N
Dtsch Arztebl Int 2020 Mar 27;117(13):225-234. doi: 10.3238/arztebl.2020.0225. PMID: 32343668Free PMC Article
Filler L, Akhter M, Nimlos P
Semin Neurol 2019 Feb;39(1):20-26. Epub 2019 Feb 11 doi: 10.1055/s-0038-1677023. PMID: 30743289

Recent clinical studies

Etiology

Jayaram H, Kolko M, Friedman DS, Gazzard G
Lancet 2023 Nov 11;402(10414):1788-1801. Epub 2023 Sep 21 doi: 10.1016/S0140-6736(23)01289-8. PMID: 37742700
Karaconji T, Zagora S, Grigg JR
Clin Exp Ophthalmol 2022 Mar;50(2):232-246. Epub 2022 Jan 25 doi: 10.1111/ceo.14039. PMID: 35023613
GBD 2019 Blindness and Vision Impairment Collaborators; Vision Loss Expert Group of the Global Burden of Disease Study
Lancet Glob Health 2021 Feb;9(2):e144-e160. Epub 2020 Dec 1 doi: 10.1016/S2214-109X(20)30489-7. PMID: 33275949Free PMC Article
Haarman AEG, Enthoven CA, Tideman JWL, Tedja MS, Verhoeven VJM, Klaver CCW
Invest Ophthalmol Vis Sci 2020 Apr 9;61(4):49. doi: 10.1167/iovs.61.4.49. PMID: 32347918Free PMC Article
Weinreb RN, Aung T, Medeiros FA
JAMA 2014 May 14;311(18):1901-11. doi: 10.1001/jama.2014.3192. PMID: 24825645Free PMC Article

Diagnosis

Jayaram H, Kolko M, Friedman DS, Gazzard G
Lancet 2023 Nov 11;402(10414):1788-1801. Epub 2023 Sep 21 doi: 10.1016/S0140-6736(23)01289-8. PMID: 37742700
Selvan H, Gupta S, Wiggs JL, Gupta V
Surv Ophthalmol 2022 Jul-Aug;67(4):1099-1117. Epub 2021 Sep 16 doi: 10.1016/j.survophthal.2021.09.001. PMID: 34536459Free PMC Article
Kang JM, Tanna AP
Med Clin North Am 2021 May;105(3):493-510. Epub 2021 Apr 2 doi: 10.1016/j.mcna.2021.01.004. PMID: 33926643
Schuster AK, Erb C, Hoffmann EM, Dietlein T, Pfeiffer N
Dtsch Arztebl Int 2020 Mar 27;117(13):225-234. doi: 10.3238/arztebl.2020.0225. PMID: 32343668Free PMC Article
Weinreb RN, Aung T, Medeiros FA
JAMA 2014 May 14;311(18):1901-11. doi: 10.1001/jama.2014.3192. PMID: 24825645Free PMC Article

Therapy

Jiang C, Melles RB, Sangani P, Hoffmann TJ, Hysi PG, Glymour MM, Jorgenson E, Lachke SA, Choquet H
Invest Ophthalmol Vis Sci 2023 Jul 3;64(10):19. doi: 10.1167/iovs.64.10.19. PMID: 37459064Free PMC Article
Bicket AK, Le JT, Azuara-Blanco A, Gazzard G, Wormald R, Bunce C, Hu K, Jayaram H, King A, Otárola F, Nikita E, Shah A, Stead R, Tóth M, Li T
JAMA Ophthalmol 2021 Sep 1;139(9):983-989. doi: 10.1001/jamaophthalmol.2021.2351. PMID: 34264292Free PMC Article
Haarman AEG, Enthoven CA, Tideman JWL, Tedja MS, Verhoeven VJM, Klaver CCW
Invest Ophthalmol Vis Sci 2020 Apr 9;61(4):49. doi: 10.1167/iovs.61.4.49. PMID: 32347918Free PMC Article
Li T, Lindsley K, Rouse B, Hong H, Shi Q, Friedman DS, Wormald R, Dickersin K
Ophthalmology 2016 Jan;123(1):129-40. Epub 2015 Oct 31 doi: 10.1016/j.ophtha.2015.09.005. PMID: 26526633Free PMC Article
Anderson DR; Normal Tension Glaucoma Study
Curr Opin Ophthalmol 2003 Apr;14(2):86-90. doi: 10.1097/00055735-200304000-00006. PMID: 12698048

Prognosis

Li F, Su Y, Lin F, Li Z, Song Y, Nie S, Xu J, Chen L, Chen S, Li H, Xue K, Che H, Chen Z, Yang B, Zhang H, Ge M, Zhong W, Yang C, Chen L, Wang F, Jia Y, Li W, Wu Y, Li Y, Gao Y, Zhou Y, Zhang K, Zhang X
J Clin Invest 2022 Jun 1;132(11) doi: 10.1172/JCI157968. PMID: 35642636Free PMC Article
Haarman AEG, Enthoven CA, Tideman JWL, Tedja MS, Verhoeven VJM, Klaver CCW
Invest Ophthalmol Vis Sci 2020 Apr 9;61(4):49. doi: 10.1167/iovs.61.4.49. PMID: 32347918Free PMC Article
Roberti G, Oddone F, Agnifili L, Katsanos A, Michelessi M, Mastropasqua L, Quaranta L, Riva I, Tanga L, Manni G
Surv Ophthalmol 2020 Jul-Aug;65(4):458-472. Epub 2020 Feb 11 doi: 10.1016/j.survophthal.2020.01.002. PMID: 32057761
Roy S, Mermoud A
Dev Ophthalmol 2012;50:29-36. Epub 2012 Apr 17 doi: 10.1159/000334772. PMID: 22517171
Wright KW
Curr Opin Ophthalmol 1997 Feb;8(1):50-5. PMID: 10168274

Clinical prediction guides

Jiang C, Melles RB, Sangani P, Hoffmann TJ, Hysi PG, Glymour MM, Jorgenson E, Lachke SA, Choquet H
Invest Ophthalmol Vis Sci 2023 Jul 3;64(10):19. doi: 10.1167/iovs.64.10.19. PMID: 37459064Free PMC Article
Rong R, Wang M, You M, Li H, Xia X, Ji D
J Cell Physiol 2021 Oct;236(10):7097-7116. Epub 2021 Feb 26 doi: 10.1002/jcp.30347. PMID: 33634475Free PMC Article
GBD 2019 Blindness and Vision Impairment Collaborators; Vision Loss Expert Group of the Global Burden of Disease Study
Lancet Glob Health 2021 Feb;9(2):e130-e143. Epub 2020 Dec 1 doi: 10.1016/S2214-109X(20)30425-3. PMID: 33275950Free PMC Article
Roy S, Mermoud A
Dev Ophthalmol 2017;59:36-42. Epub 2017 Apr 25 doi: 10.1159/000458484. PMID: 28442685
Melancia D, Abegão Pinto L, Marques-Neves C
Ophthalmic Res 2015;53(3):141-8. Epub 2015 Mar 7 doi: 10.1159/000377635. PMID: 25765255

Recent systematic reviews

Chan HN, Zhang XJ, Ling XT, Bui CH, Wang YM, Ip P, Chu WK, Chen LJ, Tham CC, Yam JC, Pang CP
Int J Mol Sci 2022 Apr 11;23(8) doi: 10.3390/ijms23084226. PMID: 35457041Free PMC Article
GBD 2019 Blindness and Vision Impairment Collaborators; Vision Loss Expert Group of the Global Burden of Disease Study
Lancet Glob Health 2021 Feb;9(2):e144-e160. Epub 2020 Dec 1 doi: 10.1016/S2214-109X(20)30489-7. PMID: 33275949Free PMC Article
Flaxman SR, Bourne RRA, Resnikoff S, Ackland P, Braithwaite T, Cicinelli MV, Das A, Jonas JB, Keeffe J, Kempen JH, Leasher J, Limburg H, Naidoo K, Pesudovs K, Silvester A, Stevens GA, Tahhan N, Wong TY, Taylor HR; Vision Loss Expert Group of the Global Burden of Disease Study
Lancet Glob Health 2017 Dec;5(12):e1221-e1234. Epub 2017 Oct 11 doi: 10.1016/S2214-109X(17)30393-5. PMID: 29032195
Whiting PF, Wolff RF, Deshpande S, Di Nisio M, Duffy S, Hernandez AV, Keurentjes JC, Lang S, Misso K, Ryder S, Schmidlkofer S, Westwood M, Kleijnen J
JAMA 2015 Jun 23-30;313(24):2456-73. doi: 10.1001/jama.2015.6358. PMID: 26103030
Tham YC, Li X, Wong TY, Quigley HA, Aung T, Cheng CY
Ophthalmology 2014 Nov;121(11):2081-90. Epub 2014 Jun 26 doi: 10.1016/j.ophtha.2014.05.013. PMID: 24974815

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