Incomplete congenital stationary night blindness associated with symmetrical retinal atrophy.
OBJECTIVE
To describe a Japanese patient with incomplete congenital stationary night blindness (iCSNB) with atypical retinal atrophy and kinetic visual field defects.


METHODS
An ophthalmologic examination was performed, and the CACNA1F gene was analyzed by direct genomic sequencing.


RESULTS
The patient had a hemizygous Arg913stop mutation in CACNA1F and had electroretinographic changes that were typical of iCSNB. The fundus had atrophic retinal lesions around the inferior vascular arcades OU, and Goldmann kinetic perimetry showed relative scotomas in the corresponding areas.


CONCLUSIONS
Although most patients with iCSNB show essentially normal fundi without visual field defects, this case demonstrated retinal atrophy associated with visual field defects indicating a phenotypic heterogeneity induced by the CACNA1F mutation.
Department of Ophthalmology, Nagoya University Graduate School of Medicine, Japan. makonaka@med.nagoya-u.ac.jp
Makoto
M
Nakamura
Sei
S
Ito
Hiroko
H
Terasaki
Yozo
Y
Miyake
D000328:Adult; D001284:Atrophy; D015220:Calcium Channels / Q000235:genetics; D020746:Calcium Channels, L-Type; D018388:Codon, Terminator / Q000235:genetics; D004252:DNA Mutational Analysis; D004596:Electroretinography; D015785:Eye Diseases, Hereditary / Q000175:diagnosis* / Q000235:genetics; D005451:Fluorescein Angiography; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D009755:Night Blindness / Q000151:congenital* / Q000235:genetics / Q000473:pathology; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D012160:Retina / Q000473:pathology*; D058609:Visual Field Tests; D014794:Visual Fields; D014960:X Chromosome
C113330:CACNA1F protein, human; D015220:Calcium Channels; D020746:Calcium Channels, L-Type; D018388:Codon, Terminator