EPOS

European Paediatric Ophthalmological Society

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Duane’s retraction syndrome associated with mitochondrial DNA mutation.

Macarez Remi¹, Vanimschoot Morgane¹, Bathany David¹, Ferran-Perin Brigitte¹, Ocamica Pierre¹, Kovalski Jean-Luc^1
1Service d'ophtalmologie HIA Clermont-Tonnerre Brest France

Introduction: Duane’s retraction syndrome (DRS) is a rare condition resulting from a paradoxical innervation of rectus lateral muscle by branches of the oculomotor nerve. We report a case of rare association of Duane’s retraction syndrome with mental retardation associated with mitochondrial DNA mutation in a seven-year-old child. Methods: Case report Results: She has been referred to our department because of an abnormal eye position associated with a slight torticollis. When first seen by us, her visual acuity was 20/20 in each eye and the ocular motility examination revealed type 1 left Duane’s syndrome. It was characterized by a left globe retraction with normal adduction in right gaze and narrowing of the left interpalpebral fissure. In left gaze, restricted abduction of the left eye was noted. Primary position showed no deviation. This oculomotor condition was associated with a mental retardation of an unknown origin. A muscle biopsy was performed which disclosed an important decrease of mitochondrial DNA related complexes. Mitochondrial DNA testing showed two homoplastic mutations with a methionine to threonine transfomation. Molecular biology could not be performed in any other member of her family as she lives in a welcome family because of a difficult social situation since she was born. Conclusion: To our knowledge, this would be the first case reporting such an association which may be fortuitous. However, we cannot eliminate the possibility of a mitochondrial origin of this unilateral DRS associated with mental retardation.