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Cataract 49(CTRCT49)

MedGen UID:
1794220
Concept ID:
C5562010
Disease or Syndrome
Synonym: CARARACT 49, POSTERIOR
 
Gene (location): PANK4 (1p36.32)
 
Monarch Initiative: MONDO:0030465
OMIM®: 619593

Definition

Cataract-49 (CTRCT49) is characterized by congenital cataract located in the posterior region of the lens. Visual impairment has onset in early childhood (Sun et al., 2019). [from OMIM]

Clinical features

From HPO
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.
Reduced visual acuity
MedGen UID:
65889
Concept ID:
C0234632
Finding
Diminished clarity of vision.
Posterior cortical cataract
MedGen UID:
869227
Concept ID:
C4023650
Finding
A cataract that affects the posterior part of the cortex of the lens.

Professional guidelines

PubMed

Wallerstein A, Gauvin M
J Cataract Refract Surg 2023 Apr 1;49(4):448. doi: 10.1097/j.jcrs.0000000000001162. PMID: 36745846
Patel SN, Storey PP, Levin H, Pancholy M, Obeid A, Wibbelsman TD, Kuley B, Ho AC, Hsu J, Garg SJ, Vander JF, Dunn JP
Ophthalmol Retina 2021 Jan;5(1):16-22. Epub 2020 Jun 26 doi: 10.1016/j.oret.2020.06.028. PMID: 32599176
Rosenbaum JT, Bodaghi B, Couto C, Zierhut M, Acharya N, Pavesio C, Tay-Kearney ML, Neri P, Douglas K, Pathai S, Song AP, Kron M, Foster CS
Semin Arthritis Rheum 2019 Dec;49(3):438-445. Epub 2019 Jun 10 doi: 10.1016/j.semarthrit.2019.06.004. PMID: 31301816

Recent clinical studies

Etiology

Ahmed IIK, De Francesco T, Rhee D, McCabe C, Flowers B, Gazzard G, Samuelson TW, Singh K; HORIZON Investigators
Ophthalmology 2022 Jul;129(7):742-751. Epub 2022 Feb 23 doi: 10.1016/j.ophtha.2022.02.021. PMID: 35218867
Ang MJ, Afshari NA
Clin Exp Ophthalmol 2021 Mar;49(2):118-127. Epub 2021 Jan 10 doi: 10.1111/ceo.13892. PMID: 33426783
Pegu J, Jain K, Dubey S
Middle East Afr J Ophthalmol 2020 Oct-Dec;27(4):224-227. Epub 2021 Jan 19 doi: 10.4103/meajo.MEAJO_120_19. PMID: 33814819Free 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

Diagnosis

Mishriky BM, Cummings DM, Powell JR
Prim Care 2022 Jun;49(2):239-254. Epub 2022 Apr 22 doi: 10.1016/j.pop.2021.11.008. PMID: 35595480
Pegu J, Jain K, Dubey S
Middle East Afr J Ophthalmol 2020 Oct-Dec;27(4):224-227. Epub 2021 Jan 19 doi: 10.4103/meajo.MEAJO_120_19. PMID: 33814819Free 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
Gupta VP, Chaudhari I
Middle East Afr J Ophthalmol 2018 Jan-Mar;25(1):49-51. doi: 10.4103/meajo.MEAJO_221_17. PMID: 29899652Free PMC Article
Ajamian PC
Optom Clin 1993;3(2):49-56. PMID: 8268696

Therapy

Augustin VA, Son HS, Yildirim TM, Meis J, Łabuz G, Auffarth GU, Khoramnia R
J Cataract Refract Surg 2023 Sep 1;49(9):982-987. doi: 10.1097/j.jcrs.0000000000001212. PMID: 37144644
Ahmed IIK, De Francesco T, Rhee D, McCabe C, Flowers B, Gazzard G, Samuelson TW, Singh K; HORIZON Investigators
Ophthalmology 2022 Jul;129(7):742-751. Epub 2022 Feb 23 doi: 10.1016/j.ophtha.2022.02.021. PMID: 35218867
Naderi K, Gormley J, O'Brart D
Eur J Ophthalmol 2020 Sep;30(5):840-855. Epub 2020 Jun 9 doi: 10.1177/1120672120929958. PMID: 32515220Free 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
Sharma YR, Vajpayee RB, Honavar SG
Arch Environ Health 1994 Sep-Oct;49(5):414-7. doi: 10.1080/00039896.1994.9954995. PMID: 7944574

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
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
Olson RJ
Surv Ophthalmol 2004 Mar;49 Suppl 2:S55-61. doi: 10.1016/j.survophthal.2004.01.002. PMID: 15028480
Sharma YR, Vajpayee RB, Honavar SG
Arch Environ Health 1994 Sep-Oct;49(5):414-7. doi: 10.1080/00039896.1994.9954995. PMID: 7944574
Ferguson VM, Spalton DJ
Br J Ophthalmol 1991 Feb;75(2):106-10. doi: 10.1136/bjo.75.2.106. PMID: 1995037Free PMC Article

Clinical prediction guides

Hayes WG, Wilson ME, Trivedi RH
J AAPOS 2024 Aug;28(4):103965. Epub 2024 Jul 3 doi: 10.1016/j.jaapos.2024.103965. PMID: 38969089
Huynh B, Kibret G, Wechsler D, Lee A, Lim R, Clement C, Lawlor M
Int Ophthalmol 2024 Apr 25;44(1):200. doi: 10.1007/s10792-024-03104-x. PMID: 38662305Free PMC Article
Patel VS, Simon JW, Schultze RL
J AAPOS 2010 Oct;14(5):396-8. doi: 10.1016/j.jaapos.2010.07.008. PMID: 21035064
Vasavada AR, Trivedi RH
J Cataract Refract Surg 1999 Nov;25(11):1527-31. doi: 10.1016/s0886-3350(99)00197-2. PMID: 10569170
Ajamian PC
Optom Clin 1993;3(2):49-56. PMID: 8268696

Recent systematic reviews

Ravipati A, Pradeep T, Donaldson KE
J Cataract Refract Surg 2023 Aug 1;49(8):885-889. doi: 10.1097/j.jcrs.0000000000001214. PMID: 37144645
MacNeill K, Jindani Y, Patil N, Solish D, Gelkopf MJ, Sabri K
J Cataract Refract Surg 2023 Oct 1;49(10):1061-1067. doi: 10.1097/j.jcrs.0000000000001213. PMID: 37144642
Tognetto D, Giglio R, Vinciguerra AL, Milan S, Rejdak R, Rejdak M, Zaluska-Ogryzek K, Zweifel S, Toro MD
Surv Ophthalmol 2022 May-Jun;67(3):817-829. Epub 2021 Oct 1 doi: 10.1016/j.survophthal.2021.09.004. PMID: 34606818
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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