Pattern Dystrophy of the Macula in a Case of Steinert Disease

Introduction: Myotonic dystrophies are typically associated with ocular complications like ptosis, weakness of the ocular muscle and cataracts, but also with less recognized retinal changes. Case Report: A 41-year-old female with type 1 myotonic dystrophy complained of progressive vision loss. Slit lamp examination revealed the presence of typical bilateral polychromatic cataract with posterior subcapsular component. Dilated fundus examination was remarkable for bilateral macular depigmented changes. Multimodal imaging analysis of the macula suggested the presence of a butterfly-shaped pattern dystrophy. Discussion: In cases of myotonic dystrophies it is of great relevance to analyze the presence of retinal changes that might limit the visual improvement following cataract extraction.

[1]  C. Pavlin,et al.  Association between uveal melanoma and myotonic dystrophy: a series of 3 cases. , 2013, JAMA ophthalmology.

[2]  Rebecca Diller,et al.  Spider dystrophy as an ocular manifestation of myotonic dystrophy. , 2010, Optometry.

[3]  D. Hilton‐Jones,et al.  The myotonic dystrophies: diagnosis and management , 2010, Journal of Neurology, Neurosurgery & Psychiatry.

[4]  Ji Soo Kim,et al.  A Case of Myotonic Dystrophy With Pigmentary Retinal Changes , 2009, Korean journal of ophthalmology : KJO.

[5]  I. Pénisson-Besnier,et al.  Manifestations oculaires des maladies du muscle et de la jonction neuromusculaire , 2008 .

[6]  D. Zack,et al.  A novel RDS/peripherin gene mutation associated with diverse macular phenotypes , 2004, Ophthalmic genetics.

[7]  C. Amemiya,et al.  Myotonic dystrophy mutation: an unstable CTG repeat in the 3' untranslated region of the gene. , 1992, Science.

[8]  J. Folk,et al.  Pattern dystrophy of the retinal pigment epithelium. , 1982, Ophthalmology.

[9]  H. Tampo,et al.  Butterfly-shaped pattern dystrophy in myotonic dystrophy. , 2012, Internal medicine.

[10]  V. Romeo.  Myotonic Dystrophy Type 1 or Steinert's disease. , 2012, Advances in experimental medicine and biology.

[11]  R. Krishnan,et al.  Spontaneous bilateral lamellar macular holes and foveal schisis associated with myotonic dystrophy type 1 , 2010, Clinical & experimental ophthalmology.

[12]  C. Lamirel,et al.  [Ocular disturbances in neuromuscular disorders]. , 2008, Revue neurologique.

[13]  D. Shaw,et al.  Localisation of the myotonic dystrophy locus to 19q13.2–19q13.3 and its relationship to twelve polymorphic loci on 19q , 2005, Human Genetics.

[14]  M. Kiyosawa,et al.  RETINAL CHANGES IN MYOTONIC DYSTROPHY: Clinical and Follow‐up Evaluation , 1993, Retina.

[15]  M. Tamai,et al.  Pattern dystrophy of the retinal pigment epithelium. , 1990, Retina.