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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.
See: Feature record | Search on this feature
Exotropia
MedGen UID:
4613
•Concept ID:
C0015310
•
Disease or Syndrome
A form of strabismus with one or both eyes deviated outward.
See: Feature record | Search on this feature
Miosis
MedGen UID:
6409
•Concept ID:
C0026205
•
Disease or Syndrome
Abnormal (non-physiological) constriction of the pupil.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
Reduced visual acuity
MedGen UID:
65889
•Concept ID:
C0234632
•
Finding
Diminished clarity of vision.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature

Professional guidelines

PubMed

Risk Assessment and Prevention of Falls in Older Community-Dwelling Adults: A Review.
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
Current practice in the management of ocular toxoplasmosis.
Yogeswaran K, Furtado JM, Bodaghi B, Matthews JM; International Ocular Toxoplasmosis Study Group, Smith JR
Br J Ophthalmol 2023 Jul;107(7):973-979. Epub 2022 Feb 23 doi: 10.1136/bjophthalmol-2022-321091. PMID: 35197262
Diagnosis and management of postrefractive surgery ectasia.
Hatch KM, Ling JJ, Wiley WF, Cason J, Ciralsky JB, Nehls SM, McCabe CM, Donnenfeld ED, Thompson V
J Cataract Refract Surg 2022 Apr 1;48(4):487-499. doi: 10.1097/j.jcrs.0000000000000808. PMID: 34486581

Recent clinical studies

Etiology

Outcomes of Partial Versus Complete Goniotomy With or Without Phacoemulsification for Primary Open Angle Glaucoma: A Multicenter Study.
Song Y, Zhu X, Zhang Y, Shu J, Dang G, Zhou W, Sun L, Li F, Lin F, Zhang Y, Liang X, Wang Z, Zhang Y, Zhang Y, Chen W, Zeng L, Tang L, Xie L, Lam DSC, Wang N, Barton K, Weinreb RN, Zhang X; PVP study group
J Glaucoma 2023 Jul 1;32(7):563-568. Epub 2023 Mar 30 doi: 10.1097/IJG.0000000000002210. PMID: 37054442
Metabolic and lifestyle factors in relation to senile cataract: a Mendelian randomization study.
Yuan S, Wolk A, Larsson SC
Sci Rep 2022 Jan 10;12(1):409. doi: 10.1038/s41598-021-04515-x. PMID: 35013517Free PMC Article
The Complications of Myopia: A Review and Meta-Analysis.
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
Association of Pediatric Atopic Dermatitis and Cataract Development and Surgery.
Jeon HS, Choi M, Byun SJ, Hyon JY, Park KH, Park SJ
JAMA Ophthalmol 2018 Aug 1;136(8):912-918. doi: 10.1001/jamaophthalmol.2018.2166. PMID: 29879279Free PMC Article
Congenital hereditary cataracts.
Graw J
Int J Dev Biol 2004;48(8-9):1031-44. doi: 10.1387/ijdb.041854jg. PMID: 15558493

Diagnosis

The Association Between Eye Disease and Incidence of Dementia: Systematic Review and Meta-Analysis.
Feng J, Huang C, Liang L, Li C, Wang X, Ma J, Guan X, Jiang B, Huang S, Qin P
J Am Med Dir Assoc 2023 Sep;24(9):1363-1373.e6. Epub 2023 Jul 29 doi: 10.1016/j.jamda.2023.06.025. PMID: 37527793
Outcomes of Partial Versus Complete Goniotomy With or Without Phacoemulsification for Primary Open Angle Glaucoma: A Multicenter Study.
Song Y, Zhu X, Zhang Y, Shu J, Dang G, Zhou W, Sun L, Li F, Lin F, Zhang Y, Liang X, Wang Z, Zhang Y, Zhang Y, Chen W, Zeng L, Tang L, Xie L, Lam DSC, Wang N, Barton K, Weinreb RN, Zhang X; PVP study group
J Glaucoma 2023 Jul 1;32(7):563-568. Epub 2023 Mar 30 doi: 10.1097/IJG.0000000000002210. PMID: 37054442
The Complications of Myopia: A Review and Meta-Analysis.
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
Clinical Registries in Ophthalmology.
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
Pseudophakic retinal detachment.
Lois N, Wong D
Surv Ophthalmol 2003 Sep-Oct;48(5):467-87. doi: 10.1016/s0039-6257(03)00083-3. PMID: 14499816

Therapy

The Association Between Eye Disease and Incidence of Dementia: Systematic Review and Meta-Analysis.
Feng J, Huang C, Liang L, Li C, Wang X, Ma J, Guan X, Jiang B, Huang S, Qin P
J Am Med Dir Assoc 2023 Sep;24(9):1363-1373.e6. Epub 2023 Jul 29 doi: 10.1016/j.jamda.2023.06.025. PMID: 37527793
Outcomes of Partial Versus Complete Goniotomy With or Without Phacoemulsification for Primary Open Angle Glaucoma: A Multicenter Study.
Song Y, Zhu X, Zhang Y, Shu J, Dang G, Zhou W, Sun L, Li F, Lin F, Zhang Y, Liang X, Wang Z, Zhang Y, Zhang Y, Chen W, Zeng L, Tang L, Xie L, Lam DSC, Wang N, Barton K, Weinreb RN, Zhang X; PVP study group
J Glaucoma 2023 Jul 1;32(7):563-568. Epub 2023 Mar 30 doi: 10.1097/IJG.0000000000002210. PMID: 37054442
Metabolic and lifestyle factors in relation to senile cataract: a Mendelian randomization study.
Yuan S, Wolk A, Larsson SC
Sci Rep 2022 Jan 10;12(1):409. doi: 10.1038/s41598-021-04515-x. PMID: 35013517Free PMC Article
The Complications of Myopia: A Review and Meta-Analysis.
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
Congenital hereditary cataracts.
Graw J
Int J Dev Biol 2004;48(8-9):1031-44. doi: 10.1387/ijdb.041854jg. PMID: 15558493

Prognosis

The Association Between Eye Disease and Incidence of Dementia: Systematic Review and Meta-Analysis.
Feng J, Huang C, Liang L, Li C, Wang X, Ma J, Guan X, Jiang B, Huang S, Qin P
J Am Med Dir Assoc 2023 Sep;24(9):1363-1373.e6. Epub 2023 Jul 29 doi: 10.1016/j.jamda.2023.06.025. PMID: 37527793
Trends in prevalence of blindness and distance and near vision impairment over 30 years: an analysis for the Global Burden of Disease Study.
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
The Complications of Myopia: A Review and Meta-Analysis.
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
Association of Pediatric Atopic Dermatitis and Cataract Development and Surgery.
Jeon HS, Choi M, Byun SJ, Hyon JY, Park KH, Park SJ
JAMA Ophthalmol 2018 Aug 1;136(8):912-918. doi: 10.1001/jamaophthalmol.2018.2166. PMID: 29879279Free PMC Article
Evaluation of the macula prior to cataract surgery.
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

The Association Between Eye Disease and Incidence of Dementia: Systematic Review and Meta-Analysis.
Feng J, Huang C, Liang L, Li C, Wang X, Ma J, Guan X, Jiang B, Huang S, Qin P
J Am Med Dir Assoc 2023 Sep;24(9):1363-1373.e6. Epub 2023 Jul 29 doi: 10.1016/j.jamda.2023.06.025. PMID: 37527793
Trends in prevalence of blindness and distance and near vision impairment over 30 years: an analysis for the Global Burden of Disease Study.
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
Impact of Dry Eye on Visual Acuity and Contrast Sensitivity: Dry Eye Assessment and Management Study.
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
Clinical Registries in Ophthalmology.
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
Evaluation of the macula prior to cataract surgery.
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

The Association Between Eye Disease and Incidence of Dementia: Systematic Review and Meta-Analysis.
Feng J, Huang C, Liang L, Li C, Wang X, Ma J, Guan X, Jiang B, Huang S, Qin P
J Am Med Dir Assoc 2023 Sep;24(9):1363-1373.e6. Epub 2023 Jul 29 doi: 10.1016/j.jamda.2023.06.025. PMID: 37527793
Vitamin D and Ocular Diseases: A Systematic Review.
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
Trends in prevalence of blindness and distance and near vision impairment over 30 years: an analysis for the Global Burden of Disease Study.
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
The Complications of Myopia: A Review and Meta-Analysis.
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
Global causes of blindness and distance vision impairment 1990-2020: a systematic review and meta-analysis.
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

Supplemental Content

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    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen

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