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Beitragstitel Posterior Pole Involvement in Patients affected by Dystrophia Myotonica 1 (DM1): Correlation to Genotype?
Autor:innen
  1. Karen Schaal Inselspital, Universitätsspital Bern Präsentierende:r
  2. Kaspar Schuerch Department of Ophthalmology, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland
  3. Claudine Rieubland Division of Human Genetics, Department of Pediatrics, Inselspital, Bern University Hospital, University of Bern, Switzerland
  4. Muriel Ott Department of Ophthalmology, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland
  5. Lilly Khamsy Cabinet Sion & Montreux
  6. Wolfgang Berger Institute of medical molecular genetics, University of Zurich, Zurich, Switzerland
  7. André Schaller Division of Human Genetics, Department of Pediatrics, Inselspital, Bern University Hospital, University of Bern, Switzerland
  8. Pascal Escher Inselspital - Universitätsspital Bern
Präsentationsform Free Paper
Themengebiete
  • Others
  • Retina Vitreous
Abstract-Text Purpose: Patients affected by Myotonic Dystrophy Type 1 or Dystrophia myotonica 1 (DM1), also called Curschmann-Steinert disease, show variable systemic manifestation of the disease and variable ocular findings. Cataract and Ptosis are well recognized ocular findings associated with the disease, but the posterior pole can also be affected. We performed a prospective clinical study to determine whether posterior pole involvement is dependent on the genotype.

Methods: Patients diagnosed with DM1 underwent complete ophthalmic examination including multimodal imaging (SD-OCT, color fundus photo, infra-red reflectance, infra-red fluorescence, red-free photographs, SS-OCTA and fundus autofluorescence) of the macula (55°) and optic disc, to detect changes at the posterior pole. Upon written consent, patients underwent genetic testing and the number of CTG triplet repeats in the 3’-region of the DMPK gene was assessed by PCR and Southern Plot. A number of CTG triplet repeats of ~50 was considered pathogenic. Number of triplet repeats was then correlated with posterior pole findings.

Results: 16 patients (5 male; 11 female, mean age: 42 ± 15 years) underwent genetic testing and multimodal imaging. 15 patients had ≥50 CTG triplet repeats in the 3’-region of the DMPK gene and entered the study. Genetic testing revealed a spectrum of 50 – 1000 CTG triplet repeats associated with a variable degree of systemic manifestation (subclinical to severely affected). Posterior pole involvement ranged from the presence of subretinal drusenoid deposits solely around the optic nerve to severe maculopathy.

Conclusions: Extensive CTG triplet expansions (up to 1000 repeats) lead to severe systemic manifestations, the posterior pole however appears to be less affected. Patients with CTG triplet expansions at the lower limit (~50 repeats) show subclinical systemic findings but can show severe maculopathy.