title: Oguchi disease masked by retinitis pigmentosa.
abstract: The purpose of this study was to report a patient with Oguchi disease whose ophthalmological characteristics were masked by retinitis pigmentosa (RP). The method used in this study was case report. A 53-year-old man had a progressive decrease in his visual acuity and was diagnosed with RP because of night blindness, fundoscopic findings, ring scotoma, and extinguished single-flash electroretinograms (ERGs). However, a faint golden-yellowish reflex of the retina prompted us to make a more detailed examination of the fundus after a long period of dark adaptation, ERGs, and genetic analysis. Examinations showed the Mizuo-Nakamura phenomenon, relative intact photopic ERGs, and a SAG mutation, and the patient was diagnosed with RP associated with Oguchi disease. When RP accompanies Oguchi disease, the clinical characteristics of Oguchi disease might be masked. In such a situation, the correct diagnosis is difficult. However, careful analysis of clinical findings will suggest Oguchi disease, which can be confirmed by molecular genetics.
authors.affiliation: Ideta Eye Hospital, Kumamoto, Japan.
authors.forename: Hiroko
authors.initials: H
authors.lastname: Sonoyama
authors.forename: Kei
authors.initials: K
authors.lastname: Shinoda
authors.forename: Chie
authors.initials: C
authors.lastname: Ishigami
authors.forename: Yumi
authors.initials: Y
authors.lastname: Tada
authors.forename: Hidenao
authors.initials: H
authors.lastname: Ideta
authors.forename: Ryuichi
authors.initials: R
authors.lastname: Ideta
authors.forename: Masayo
authors.initials: M
authors.lastname: Takahashi
authors.forename: Yozo
authors.initials: Y
authors.lastname: Miyake
mesh_terms: D019393:Arrestin / Q000235:genetics / Q000378:metabolism; D004247:DNA / Q000235:genetics; D003623:Dark Adaptation / Q000502:physiology*; D003937:Diagnosis, Differential; D004596:Electroretinography; D015785:Eye Diseases, Hereditary; D005451:Fluorescein Angiography; D005654:Fundus Oculi; D051606:G-Protein-Coupled Receptor Kinase 1 / Q000235:genetics / Q000378:metabolism; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008875:Middle Aged; D009755:Night Blindness / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D010375:Pedigree; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D012160:Retina / Q000378:metabolism / Q000473:pathology / Q000503:physiopathology; D012174:Retinitis Pigmentosa / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D041623:Tomography, Optical Coherence; D014794:Visual Fields
chemical_list: D019393:Arrestin; D004247:DNA; D051606:G-Protein-Coupled Receptor Kinase 1; C496764:GRK1 protein, human