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Myotonic cataract

MedGen UID:
44565
•Concept ID:
C0027128
•
Disease or Syndrome
Synonyms: Myotonic Cataract; myotonic cataract
SNOMED CT: Myotonic cataract (64741003)
 
Monarch Initiative: MONDO:0004495

Definition

A cataract occurring as a sequela of myotonic dystrophy. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMyotonic cataract

Professional guidelines

PubMed

Best practice guidelines and recommendations on the molecular diagnosis of myotonic dystrophy types 1 and 2.
Kamsteeg EJ, Kress W, Catalli C, Hertz JM, Witsch-Baumgartner M, Buckley MF, van Engelen BG, Schwartz M, Scheffer H
Eur J Hum Genet 2012 Dec;20(12):1203-8. Epub 2012 May 30 doi: 10.1038/ejhg.2012.108. PMID: 22643181Free PMC Article
Carrell-Krusen Symposium Invited Lecture-1997. Myotonic disorders in childhood: diagnosis and treatment.
Moxley RT 3rd
J Child Neurol 1997 Feb;12(2):116-29. doi: 10.1177/088307389701200208. PMID: 9075021
Myotonic dystrophy and its differential diagnosis.
Zellweger H, Ionasescu V
Acta Neurol Scand Suppl 1973;55:5-28. PMID: 4518711

Recent clinical studies

Diagnosis

Reassessment of the specificity of lens opacities in myotonic dystrophy.
Giordano M, Comoli AM, De Angelis MS, Mutani R, Sebastiani F, Richiardi PM
Ophthalmic Res 1996;28(4):224-9. doi: 10.1159/000267907. PMID: 8878185
Cataracts in myotonic dystrophy.
Grala PE
J Am Optom Assoc 1983 Dec;54(12):1067-8. PMID: 6655188

Therapy

Reassessment of the specificity of lens opacities in myotonic dystrophy.
Giordano M, Comoli AM, De Angelis MS, Mutani R, Sebastiani F, Richiardi PM
Ophthalmic Res 1996;28(4):224-9. doi: 10.1159/000267907. PMID: 8878185

Prognosis

Cataracts in myotonic dystrophy.
Grala PE
J Am Optom Assoc 1983 Dec;54(12):1067-8. PMID: 6655188

Supplemental Content

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