Bilateral optic nerve atrophy in myotonic dystrophy.
OBJECTIVE
To document a case of bilateral optic atrophy in a patient with myotonic dystrophy. Myotonic dystrophy is an autosomal dominant disorder, genetically resulting from an expansion of an unstable CTG repeat in the 3'-untranslated region of a protein kinase gene (DMPK) on chromosome 19q13.3.


METHODS
Case report, clinical examination, fundus photographs, visual fields, visual evoked potentials, electroretinograms, and genetic studies of a 56-year-old woman clinically diagnosed with myotonic dystrophy.


RESULTS
The patient experienced decreased vision consisting of light perception with the right eye and 20/25 with the left. Fundus examination showed bilateral pallor of the optic disks. Intraocular pressure was normal. Visual field testing, visual evoked potentials, and electroretinogram were abnormal. A pathologic CTG expansion in the myotonic dystrophy gene was found.


CONCLUSIONS
In a patient with myotonic dystrophy, confirmed with genetic molecular diagnosis, bilateral optic atrophy was present. Optic atrophy should be considered a possible complication of myotonic dystrophy.
Servicio de Neurologia, Hospital Gral. Vall d'Hebron, Passeig Vall d'Hebron, 119-125, 08035 Barcelona, Spain. 12784jgc@comb.es
J
J
Gamez
D
D
Montane
L
L
Martorell
T
T
Minoves
C
C
Cervera
D020413:3' Untranslated Regions / Q000235:genetics; D004247:DNA / Q000032:analysis; D004596:Electroretinography; D005074:Evoked Potentials, Visual; D005260:Female; D006801:Humans; D007429:Intraocular Pressure; D008875:Middle Aged; D009223:Myotonic Dystrophy / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D065636:Myotonin-Protein Kinase; D009896:Optic Atrophy / Q000209:etiology*; D011494:Protein Kinases / Q000235:genetics; D017346:Protein Serine-Threonine Kinases / Q000235:genetics; D014792:Visual Acuity; D014794:Visual Fields
D020413:3' Untranslated Regions; C585517:DMPK protein, human; D004247:DNA; D011494:Protein Kinases; D065636:Myotonin-Protein Kinase; D017346:Protein Serine-Threonine Kinases