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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
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
Song X, He H, Zhu Y, Wang S, Wang J, Wang W, Li Y
Br J Radiol 2020 Nov 1;93(1115):20190633. Epub 2020 Oct 6 doi: 10.1259/bjr.20190633. PMID: 32970475Free PMC Article

Recent clinical studies

Etiology

Tan QQ, Lewis JS, Lan CJ, Liao X, Tang XL, Wang J, Aljohani S, Scheiman MM
Ophthalmic Physiol Opt 2022 Sep;42(5):998-1008. Epub 2022 Jun 12 doi: 10.1111/opo.13012. PMID: 35690924Free PMC Article
Kristianslund O, Kure ISH, Drolsum L
Tidsskr Nor Laegeforen 2021 Jun 8;141(9) Epub 2021 May 25 doi: 10.4045/tidsskr.20.1005. PMID: 34107671
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
Ehrnrooth P, Lehto I, Puska P, Laatikainen L
Acta Ophthalmol Scand 2005 Oct;83(5):561-6. doi: 10.1111/j.1600-0420.2005.00499.x. PMID: 16187993
Graw J
Int J Dev Biol 2004;48(8-9):1031-44. doi: 10.1387/ijdb.041854jg. PMID: 15558493

Diagnosis

Fram NR, Bedrood S, Durr GM, Liaboe CA, Samuelson TW, Shah M, McCabe C
J Cataract Refract Surg 2022 Feb 1;48(2):254. doi: 10.1097/j.jcrs.0000000000000882. PMID: 35082239
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
Wielders LHP, Schouten JSAG, Nuijts RMMA
Curr Opin Ophthalmol 2018 Jan;29(1):48-53. doi: 10.1097/ICU.0000000000000436. PMID: 28914687
Mamalis N, Edelhauser HF, Dawson DG, Chew J, LeBoyer RM, Werner L
J Cataract Refract Surg 2006 Feb;32(2):324-33. doi: 10.1016/j.jcrs.2006.01.065. PMID: 16565012
Graw J
Int J Dev Biol 2004;48(8-9):1031-44. doi: 10.1387/ijdb.041854jg. PMID: 15558493

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
Nguyen H, Di Tanna GL, Coxon K, Brown J, Ren K, Ramke J, Burton MJ, Gordon I, Zhang JH, Furtado J, Mdala S, Kitema GF, Keay L
BMJ Open 2023 Aug 11;13(8):e065210. doi: 10.1136/bmjopen-2022-065210. PMID: 37567751Free 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
Brady CJ, Villanti AC, Law HA, Rahimy E, Reddy R, Sieving PC, Garg SJ, Tang J
Cochrane Database Syst Rev 2016 Feb 12;2(2):CD010469. doi: 10.1002/14651858.CD010469.pub2. PMID: 26866343Free PMC Article
Graw J
Int J Dev Biol 2004;48(8-9):1031-44. doi: 10.1387/ijdb.041854jg. PMID: 15558493

Prognosis

Murdoch I, Puertas R, Hamedani M, Khaw PT
J Glaucoma 2023 Mar 1;32(3):171-177. Epub 2022 Oct 31 doi: 10.1097/IJG.0000000000002144. PMID: 36375094
Tan QQ, Lewis JS, Lan CJ, Liao X, Tang XL, Wang J, Aljohani S, Scheiman MM
Ophthalmic Physiol Opt 2022 Sep;42(5):998-1008. Epub 2022 Jun 12 doi: 10.1111/opo.13012. PMID: 35690924Free 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
McKeague M, Sharma P, Ho AC
Curr Opin Ophthalmol 2018 Jan;29(1):4-8. doi: 10.1097/ICU.0000000000000432. PMID: 28902720

Clinical prediction guides

Nguyen H, Di Tanna GL, Coxon K, Brown J, Ren K, Ramke J, Burton MJ, Gordon I, Zhang JH, Furtado J, Mdala S, Kitema GF, Keay L
BMJ Open 2023 Aug 11;13(8):e065210. doi: 10.1136/bmjopen-2022-065210. PMID: 37567751Free PMC Article
Tan QQ, Lewis JS, Lan CJ, Liao X, Tang XL, Wang J, Aljohani S, Scheiman MM
Ophthalmic Physiol Opt 2022 Sep;42(5):998-1008. Epub 2022 Jun 12 doi: 10.1111/opo.13012. PMID: 35690924Free 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
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
McKeague M, Sharma P, Ho AC
Curr Opin Ophthalmol 2018 Jan;29(1):4-8. doi: 10.1097/ICU.0000000000000432. PMID: 28902720

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):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
Brady CJ, Villanti AC, Law HA, Rahimy E, Reddy R, Sieving PC, Garg SJ, Tang J
Cochrane Database Syst Rev 2016 Feb 12;2(2):CD010469. doi: 10.1002/14651858.CD010469.pub2. PMID: 26866343Free PMC Article

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