title: Retinal and optic disc atrophy associated with a CACNA1F mutation in a Japanese family.
abstract: OBJECTIVE
  To describe retinal and optic disc atrophy and a progressive decrease of visual function in 2 Japanese brothers. Both had a mutation in the CACNA1F gene, the causative gene of incomplete congenital stationary night blindness (CSNB).
  
  
  METHODS
  We studied observational case reports and performed comprehensive ophthalmologic examinations including best-corrected visual acuity, biomicroscopy, ophthalmoscopy, fundus photography, and electroretinography. Genomic DNA was extracted from the peripheral blood, and all 48 exons of the CACNA1F gene were directly sequenced.
  
  
  RESULTS
  The 2 brothers had retinal and optic disc atrophy and a progressive reduction of visual acuity with increasing age. Although these clinical features are not typical of previous patients with incomplete CSNB, both patients had an in-frame mutation with deletion and insertion in exon 4 of the CACNA1F gene. In both patients, the bright-flash, mixed rod-cone electroretinogram had a negative configuration, a characteristic of incomplete CSNB. However, the full-field scotopic and photopic electroretinograms were nonrecordable, indicating severe, diffuse retinal malfunction, which is not typical in incomplete CSNB.
  
  
  CONCLUSIONS
  These findings indicate that a mutation of the CACNA1F gene may be associated with retinal and optic disc atrophy with a progressive decline of visual function. Clinical Relevance In patients with retinal and optic disc atrophy associated with negative-type electroretinograms, a CACNA1F gene mutation should be considered.
authors.affiliation: Department of Ophthalmology, Nagoya University Graduate School of Medicine, Nagoya, Japan. makonaka@med.nagoya-u.ac.jp
authors.forename: Makoto
authors.initials: M
authors.lastname: Nakamura
authors.forename: Sei
authors.initials: S
authors.lastname: Ito
authors.forename: Chang-Hua
authors.initials: CH
authors.lastname: Piao
authors.forename: Hiroko
authors.initials: H
authors.lastname: Terasaki
authors.forename: Yozo
authors.initials: Y
authors.lastname: Miyake
mesh_terms: D000595:Amino Acid Sequence; D001284:Atrophy; D001483:Base Sequence; D015220:Calcium Channels / Q000235:genetics*; D020746:Calcium Channels, L-Type; D004252:DNA Mutational Analysis; D004596:Electroretinography; D015785:Eye Diseases, Hereditary / Q000208:ethnology / Q000235:genetics*; D006801:Humans; D007564:Japan / Q000453:epidemiology; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation; D009896:Optic Atrophy / Q000175:diagnosis / Q000208:ethnology / Q000235:genetics*; D010375:Pedigree; D016133:Polymerase Chain Reaction; D012160:Retina / Q000473:pathology*; D012164:Retinal Diseases / Q000175:diagnosis / Q000208:ethnology / Q000235:genetics*; D017384:Sequence Deletion; D014786:Vision Disorders / Q000175:diagnosis / Q000208:ethnology / Q000235:genetics; D014794:Visual Fields
chemical_list: C113330:CACNA1F protein, human; D015220:Calcium Channels; D020746:Calcium Channels, L-Type