title: Primary cataract as a key to recognition of myotonic dystrophy type 1.
abstract: OBJECTIVE
  Primary cataract is often the initial manifestation of the adult-onset type of myotonic dystrophy type 1 (DM1), the most common muscular dystrophy in adults. It is caused by a CTG repeat expansion within the DMPK gene, and anticipation may cause earlier onset and more severe symptoms in subsequent generations.
  
  
  METHODS
  We report a family with hereditary cataract, which was initially classified as primary hereditary cataract. After presentation of 2 children with motor development delay and behavioral changes, DM1 was diagnosed. Subsequently, various DM1 features were recognized in older family members.
  
  
  CONCLUSIONS
  This report aims to increase awareness among ophthalmologists of the high prevalence of DM1 among young primary cataract patients. Ophthalmologists can play a significant role in early diagnosis, since cataract frequently is the first occasion that patients seek medical attention. Early recognition is crucial since it enables adequate cardiac follow-up and allows counseling of couples of childbearing age.
authors: 1 Department of Neurology, Radboud University Medical Centre, Nijmegen - The Netherlands.
authors: Nicol C
authors: NC
authors: Voermans
authors: Corrie E
authors: CE
authors: Erasmus
authors: Charlotte W
authors: CW
authors: Ockeloen
authors: Baziel G
authors: BG
authors: Van Engelen
authors: Catharina A
authors: CA
authors: Eggink
mesh_terms: D000328:Adult; D002386:Cataract / Q000175:diagnosis*; D002387:Cataract Extraction; D002648:Child; D005260:Female; D006801:Humans; D019654:Lens Implantation, Intraocular; D008297:Male; D009223:Myotonic Dystrophy / Q000175:diagnosis*; D010375:Pedigree; D055815:Young Adult