April 2011
Volume 52, Issue 14
Free
ARVO Annual Meeting Abstract  |   April 2011
Oculopharyngeal Muscular Dystrophy: Phenotypic and Genotypic Evaluation
Author Affiliations & Notes
  • Aurore M. Mensah
    Ophthalmology,
    Copenhagen University Hospital, Copenhagen, Denmark
  • Nanna Witting
    Neurology,
    Copenhagen University Hospital, Copenhagen, Denmark
  • Dan Milea
    Ophthalmology,
    Copenhagen University Hospital, Copenhagen, Denmark
  • John Vissing
    Neurology,
    Copenhagen University Hospital, Copenhagen, Denmark
  • Footnotes
    Commercial Relationships  Aurore M. Mensah, None; Nanna Witting, None; Dan Milea, None; John Vissing, None
  • Footnotes
    Support  None
Investigative Ophthalmology & Visual Science April 2011, Vol.52, 1565. doi:
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    • Get Citation

      Aurore M. Mensah, Nanna Witting, Dan Milea, John Vissing; Oculopharyngeal Muscular Dystrophy: Phenotypic and Genotypic Evaluation. Invest. Ophthalmol. Vis. Sci. 2011;52(14):1565.

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      © ARVO (1962-2015); The Authors (2016-present)

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Abstract
 
Purpose:
 

Oculopharyngeal Muscular Dystrophy (OPMD) is an adult-onset dominantly inherited myopathy. The genetic basis has been identified as a stable trinucleotide repeat expansion ranging from (GCG)8 to (GCG)13 in the N-terminus polyalanine domain of the PABPN1 gene on chromosome 14q11.Reported cases are mostly from French, Canadian or Burkhara jews traits, and founder effects have been demonstrated in families of those decent. The condition has never been described in Scandinavia and we report the incidence, clinical presentation and genetic profiles of 10 Danish families with OPMD.

 
Methods:
 

Retrospective small cohort study of 10 families with OPMD. Demographic data and sequence of: symptoms, diagnose, treatment were collected. DNA was isolated from an EDTA blood sample by standard methods. The GCG repeats were determined by PCR with fluorescent labelled primers and the fragments were subsequent resolved on an ABI 30130xl. In case of a pathogenic expansion, the PCR reaction was repeated with non-labelled primes and the fragment was purified and directly sequenced using standard methods.

 
Results:
 

Fourteen symptomatic patients of 10 unrelated families were included and examined. Mean age was 51 years (range 37 to 60) at disease onset. Seventy-eight percent entered OPMD with a ptosis. Dysphagia, dysarthria and ophthalmoplegia appeared along with the disease progression and were correlated to patient age and disease duration. The mean delay of diagnosis after first symptom was 8 years (range 5 to 12). Thirteen patients suffering from severe ptosis were operated. The number of surgery for initially diagnosed ‘aponeurotic ptosis’ has been 3.5 per patient (range 0 to 8). These surgeries had been performed before the genetic diagnose of OPMD was made, and consisted in all cases (except one eyebrown lift) of levator palpebrae aponeurosis resection. This was frequently unsuccessful and repeated a few years after. A pathogenic trinucleotide expansion was identified and sequenced in all 10 families. Four families had a (GCG)9 expansion, 3 families a (GCG)11 expansion and the remaining 3 had the (GCG)6(GCA)1(GCG)2 expansion. The expansion was stably transmitted throughout the families.

 
Conclusions:
 

In regard to OPMD, our study verifies that the disease is world spread and is most certainly underdiagnosed. OPMD should be considered in patients with de novo bilateral and progressive ptosis and the diagnosis should be excluded prior to eyelid surgery in middle-aged subjects. Future studies measuring eye movements amplitude could bring a favourable tool to help diagnose this rare disorder

 
Keywords: eyelid • degenerations/dystrophies 
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