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Neurology: Clinical Practice logoLink to Neurology: Clinical Practice
. 2019 Oct;9(5):366–367. doi: 10.1212/CPJ.0000000000000734

Author response: Consensus-based care recommendations for adults with myotonic dystrophy type 1

Tetsuo Ashizwa 1
PMCID: PMC6814432  PMID: 31750020

We thank Brignol and Fort for their comments on our article.1 Ophthalmology played a critical role in the discovery of anticipation involving lens opacities in myotonic dystrophy type 1 (DM1) as early as the 1990s. Retinopathy has been recognized in the literature since 1918. We thank you for reminding us that retinopathy is a part of multisystemic phenotype of this disease. Eyes have also shown other ocular impairments in DM1. At present, we do not know the impact of retinopathy on daily life of patients with DM1. The validation of retinopathy in patient-reported outcome measures is confounded by the presence of other ocular abnormalities in DM1, such as lens opacities. However, we agree that retinopathy could be an objectively measurable biomarker in clinical trials of DM1. Further studies to develop electroretinogram and other retinal functional measures in correlation with the clinical or molecular measures of DM1 need to be considered. Bringing back ophthalmologists to the field of DM is very welcome.

Footnotes

Author disclosures are available upon request (ncpjournal@neurology.org)

References

  • 1.Ashizawa T, Gagnon C, Groh WJ, et al. Consensus-based care recommendations for adults with myotonic dystrophy type 1. Neurol Clin Pract 2018;8:507–520. [DOI] [PMC free article] [PubMed] [Google Scholar]

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