American journal of ophthalmology · 2002
Incomplete congenital stationary night blindness associated with symmetrical retinal atrophy.
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Nakamura Makoto, Ito Sei, Terasaki Hiroko, Miyake Yozo
Аннотация
PURPOSE: 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.
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.