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.
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.
Authors: R Jalkanen; M Mäntyjärvi; R Tobias; J Isosomppi; E-M Sankila; T Alitalo; N T Bech-Hansen Journal: J Med Genet Date: 2006-02-27 Impact factor: 6.318
Authors: Marianne N Hove; Kevser Z Kilic-Biyik; Alana Trotter; Karen Grønskov; Birgit Sander; Michael Larsen; Joseph Carroll; Torben Bech-Hansen; Thomas Rosenberg Journal: Invest Ophthalmol Vis Sci Date: 2016-12-01 Impact factor: 4.799
Authors: Clara J Men; Kinga M Bujakowska; Jason Comander; Emily Place; Emma C Bedoukian; Xiaosong Zhu; Bart P Leroy; Anne B Fulton; Eric A Pierce Journal: Mol Vis Date: 2017-10-10 Impact factor: 2.367