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Cataract 48(CTRCT48)

MedGen UID:
1684457
Concept ID:
C5193082
Disease or Syndrome
Synonyms: CATARACT 48; CTRCT48
 
Gene (location): DNMBP (10q24.2)
 
Monarch Initiative: MONDO:0032735
OMIM®: 618415

Definition

Cataract-48 (CTRCT48) is characterized by infantile or early-childhood cataracts and visual impairment (Ansar et al., 2018). [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.
Exotropia
MedGen UID:
4613
Concept ID:
C0015310
Disease or Syndrome
A form of strabismus with one or both eyes deviated outward.
Miosis
MedGen UID:
6409
Concept ID:
C0026205
Disease or Syndrome
Abnormal (non-physiological) constriction of the pupil.
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.
Reduced visual acuity
MedGen UID:
65889
Concept ID:
C0234632
Finding
Diminished clarity of vision.
Pendular nystagmus
MedGen UID:
78770
Concept ID:
C0271388
Disease or Syndrome
Rhythmic, involuntary sinusoidal oscillations of one or both eyes. The waveform of pendular nystagmus may occur in any direction.

Professional guidelines

PubMed

Colón-Emeric CS, McDermott CL, Lee DS, Berry SD
JAMA 2024 Apr 23;331(16):1397-1406. doi: 10.1001/jama.2024.1416. PMID: 38536167
Wang Y, Dong XX, Hou XW, Pan CW
Optom Vis Sci 2023 Sep 1;100(9):606-613. Epub 2023 Sep 26 doi: 10.1097/OPX.0000000000002050. PMID: 37747945
Romano V, Madrid-Costa D, Alfonso JF, Alio J, Allan B, Angunawela R, Auffarth G, Carones F, Khoramnia R, Moore J, Nanavaty MA, Savini G, Pagano L, Romano MR, Virgili G, Fernández-Vega-Cueto L
Am J Ophthalmol 2023 Sep;253:169-180. Epub 2023 May 24 doi: 10.1016/j.ajo.2023.05.002. PMID: 37236521

Recent clinical studies

Etiology

Zhou J, Lou L, Jin K, Ye J
Nutrients 2022 Dec 25;15(1) doi: 10.3390/nu15010098. PMID: 36615757Free PMC Article
Hirata A, Mine K, Hayashi K
J Cataract Refract Surg 2022 Jul 1;48(7):844-849. doi: 10.1097/j.jcrs.0000000000000967. PMID: 35537866
Rateb MF, Hussien MS, Tohamy D, Kedwany SM
J Cataract Refract Surg 2022 Mar 1;48(3):374-377. doi: 10.1097/j.jcrs.0000000000000877. PMID: 34924518
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
Yi K, Chen TC
Int Ophthalmol Clin 2008 Spring;48(2):87-94. doi: 10.1097/IIO.0b013e3181692d7a. PMID: 18427264

Diagnosis

Matović K, Mekjavić PJ, Groznik AL, Fakin A, Petrovič MG, Pfeifer V, Valentinčič NV
Ophthalmic Surg Lasers Imaging Retina 2022 Dec;53(12):702-712. Epub 2022 Dec 1 doi: 10.3928/23258160-20221026-03. PMID: 36547956
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
Kothari N, Young RC, Read SP, Tutiven J, Perez VL, Flynn HW Jr, Berrocal AM
Ophthalmic Surg Lasers Imaging Retina 2017 Jun 1;48(6):513-517. doi: 10.3928/23258160-20170601-12. PMID: 28613360
Wahowiak L
Diabetes Forecast 2015 Jul-Aug;68(4):48-52. PMID: 26373219
Yi K, Chen TC
Int Ophthalmol Clin 2008 Spring;48(2):87-94. doi: 10.1097/IIO.0b013e3181692d7a. PMID: 18427264

Therapy

Colón-Emeric CS, McDermott CL, Lee DS, Berry SD
JAMA 2024 Apr 23;331(16):1397-1406. doi: 10.1001/jama.2024.1416. PMID: 38536167
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
Vogel VG
Oncology (Williston Park) 2008 May;22(6):666-73; discussion 679, 682, 684. PMID: 18561555
Yi K, Chen TC
Int Ophthalmol Clin 2008 Spring;48(2):87-94. doi: 10.1097/IIO.0b013e3181692d7a. PMID: 18427264
Aslam TM, Devlin H, Dhillon B
Surv Ophthalmol 2003 Nov-Dec;48(6):594-612. doi: 10.1016/j.survophthal.2003.08.002. PMID: 14609706

Prognosis

Bothun ED, Shainberg MJ, Christiansen SP, Vanderveen DK, Neely DE, Kruger SJ, Cotsonis G, Lambert SR; Infant Aphakic Treatment Study
J AAPOS 2022 Aug;26(4):174.e1-174.e4. Epub 2022 Jul 14 doi: 10.1016/j.jaapos.2022.05.003. PMID: 35843488Free PMC Article
Kramer BA, Berdahl J, Gu X, Merchea M
J Cataract Refract Surg 2022 Mar 1;48(3):298-303. doi: 10.1097/j.jcrs.0000000000000748. PMID: 34415862Free 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
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
Shah M, Shah S, Upadhyay P, Agrawal R
Can J Ophthalmol 2013 Aug;48(4):251-8. doi: 10.1016/j.jcjo.2013.03.010. PMID: 23931462

Clinical prediction guides

Zhou J, Lou L, Jin K, Ye J
Nutrients 2022 Dec 25;15(1) doi: 10.3390/nu15010098. PMID: 36615757Free PMC Article
Sharma P, Kalia S, Chouhan JK
Indian J Ophthalmol 2021 Jul;69(7):1786-1791. doi: 10.4103/ijo.IJO_3751_20. PMID: 34146029Free 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
Tan JCK, Ferdi AC, Gillies MC, Watson SL
Ophthalmology 2019 May;126(5):655-662. Epub 2018 Dec 17 doi: 10.1016/j.ophtha.2018.12.030. PMID: 30572076
Shah M, Shah S, Upadhyay P, Agrawal R
Can J Ophthalmol 2013 Aug;48(4):251-8. doi: 10.1016/j.jcjo.2013.03.010. PMID: 23931462

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
Murchison CE, Petroll WM, Robertson DM
J Cataract Refract Surg 2021 Aug 1;47(8):1075-1080. doi: 10.1097/j.jcrs.0000000000000620. PMID: 33769765Free 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
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
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

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