title: [Miyake's disease].
abstract: Miyake's disease (occult macular dystrophy: OMD) was first described by Miyake et al. to be a hereditary macular dystrophy without visible fundus abnormalities. Patients with OMD are characterized by a progressive decrease of visual acuity with normal appearing fundus and normal fluorescein angiograms. The important signs of OMD are normal full-field electroretinograms (ERGs) but abnormal focal macular ERGs. In 2010, we found that dominant mutations in the RP1L1 gene were responsible for OMD by a linkage analysis of two OMD families, and recently, the same mutations were known to cause OMD in non-Japanese patients. Here, we describe how this disorder has been discovered and the causative gene was found by Miyake's group, together with the detailed characteristics of OMD.
authors: Laboratory of Visual Physiology, National Institute of Sensory Organs.
authors: Kazushige
authors: K
authors: Tsunoda
mesh_terms: D004596:Electroretinography / Q000379:methods; D008040:Genetic Linkage; D006801:Humans; D008268:Macular Degeneration / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology*; D009154:Mutation; D010375:Pedigree; D014792:Visual Acuity / Q000502:physiology*