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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

Montesano G, Ometto G, Ahmed IIK, Ramulu PY, Chang DF, Crabb DP, Gazzard G
Am J Ophthalmol 2023 Jul;251:143-155. Epub 2023 Feb 21 doi: 10.1016/j.ajo.2023.02.008. PMID: 36813144
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
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
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
Montesano G, Ometto G, Ahmed IIK, Ramulu PY, Chang DF, Crabb DP, Gazzard G
Am J Ophthalmol 2023 Jul;251:143-155. Epub 2023 Feb 21 doi: 10.1016/j.ajo.2023.02.008. PMID: 36813144
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

Prognosis

Papaliodis GN, Rosner BA, Dreger KA, Fitzgerald TD, Artornsombudh P, Kothari S, Gangaputra SS, Levy-Clarke GA, Nussenblatt RB, Rosenbaum JT, Sen HN, Suhler EB, Thorne JE, Bhatt NP, Foster CS, Jabs DA, Pak CM, Ying GS, Kempen JH; Systemic Immunosuppressive Therapy for Eye Diseases (SITE) Cohort Study Research Group
Am J Ophthalmol 2023 Oct;254:221-232. Epub 2023 Jul 5 doi: 10.1016/j.ajo.2023.06.021. PMID: 37414328Free PMC Article
Kim SW, Kim JH, Choi M, Lee SJ, Shin JP, Kim JG, Kang SW, Park KH; Korean Retina Society members
JAMA Ophthalmol 2023 Mar 1;141(3):226-233. doi: 10.1001/jamaophthalmol.2022.5927. PMID: 36656597Free 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
Pan CW, Cheng CY, Saw SM, Wang JJ, Wong TY
Am J Ophthalmol 2013 Nov;156(5):1021-1033.e1. Epub 2013 Aug 12 doi: 10.1016/j.ajo.2013.06.005. PMID: 23938120
Vasavada AR, Trivedi RH
J Cataract Refract Surg 1999 Nov;25(11):1527-31. doi: 10.1016/s0886-3350(99)00197-2. PMID: 10569170

Clinical prediction guides

Talens-Estarelles C, Díez-Ajenjo MA, Pons ÁM, Peris-Martínez C, García-Lázaro S
J Cataract Refract Surg 2023 Feb 1;49(2):177-183. doi: 10.1097/j.jcrs.0000000000001081. PMID: 36255227
Szczotka-Flynn LB, Maguire MG, Ying GS, Lin MC, Bunya VY, Dana R, Asbell PA; Dry Eye Assessment and Management (DREAM) Study Research Group
Optom Vis Sci 2019 Jun;96(6):387-396. doi: 10.1097/OPX.0000000000001387. PMID: 31116166Free PMC Article
Repka MX
Dev Ophthalmol 2016;57:49-68. Epub 2016 Apr 1 doi: 10.1159/000442501. PMID: 27043392
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

Aiello F, Gallo Afflitto G, Leviste K, Swaminathan SS, Yoo SH, Findl O, Maurino V, Nucci C
J Cataract Refract Surg 2023 Nov 1;49(11):1168-1179. doi: 10.1097/j.jcrs.0000000000001230. PMID: 37276258
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
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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