Abstract
AbstractPurpose To describe an interesting rare case of Mohr‐Tranebjærg Syndrome, a X‐liked recessive syndrome also known as Deafness‐dystonia syndrome.Setting: The severity of the symptoms may vary, but they progress usually to severe deafness and dystonia and sometimes are accompanied by cortical deterioration of vision and mental deterioration.Methods A 24‐year‐old man with Mohr‐Tranebjærg Syndrome underwent electroretinogram (ERG) and visual evoked potentials (VEPs).Results Fundus examination showed apparently normal retina with pallor of the optic disc. Pattern reversal VEP and flash VEP responses were non‐recordable. ERG showed amplitude reduction of the fotopic, scotopic and flicker responses.Conclusion Full‐field ERG revealed generalized retinal dysfunction with reduction of cone and rod responses. The progressive neurodegeneration can be associated with a retinal degeneration.
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