title: Clinical characteristics of occult macular dystrophy in family with mutation of RP1l1 gene.
abstract: OBJECTIVE
  To report the clinical characteristics of occult macular dystrophy (OMD) in members of one family with a mutation of the RP1L1 gene.
  
  
  METHODS
  Fourteen members with a p.Arg45Trp mutation in the RP1L1 gene were examined. The visual acuity, visual fields, fundus photographs, fluorescein angiograms, full-field electroretinograms, multifocal electroretinograms, and optical coherence tomographic images were examined. The clinical symptoms and signs and course of the disease were documented.
  
  
  RESULTS
  All the members with the RP1L1 mutation except one woman had ocular symptoms and signs of OMD. The fundus was normal in all the patients during the entire follow-up period except in one patient with diabetic retinopathy. Optical coherence tomography detected the early morphologic abnormalities both in the photoreceptor inner/outer segment line and cone outer segment tip line. However, the multifocal electroretinograms were more reliable in detecting minimal macular dysfunction at an early stage of OMD.
  
  
  CONCLUSIONS
  The abnormalities in the multifocal electroretinograms and optical coherence tomography observed in the OMD patients of different durations strongly support the contribution of RP1L1 mutation to the presence of this disease.
authors.affiliation: Laboratory of Visual Physiology, National Institute of Sensory Organs, Tokyo, Japan.
authors.forename: Kazushige
authors.initials: K
authors.lastname: Tsunoda
authors.forename: Tomoaki
authors.initials: T
authors.lastname: Usui
authors.forename: Tetsuhisa
authors.initials: T
authors.lastname: Hatase
authors.forename: Satoshi
authors.initials: S
authors.lastname: Yamai
authors.forename: Kaoru
authors.initials: K
authors.lastname: Fujinami
authors.forename: Gen
authors.initials: G
authors.lastname: Hanazono
authors.forename: Kei
authors.initials: K
authors.lastname: Shinoda
authors.forename: Hisao
authors.initials: H
authors.lastname: Ohde
authors.forename: Masakazu
authors.initials: M
authors.lastname: Akahori
authors.forename: Takeshi
authors.initials: T
authors.lastname: Iwata
authors.forename: Yozo
authors.initials: Y
authors.lastname: Miyake
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D004596:Electroretinography; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D005451:Fluorescein Angiography; D006801:Humans; D007564:Japan; D008268:Macular Degeneration / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010641:Phenotype; D041623:Tomography, Optical Coherence; D014792:Visual Acuity / Q000502:physiology; D014794:Visual Fields / Q000502:physiology; D055815:Young Adult
chemical_list: D005136:Eye Proteins; C474032:RP1L1 protein, human