Incomplete congenital tationary night blindne aociated with ymmetrical retinal atrophy

PURPOE: To decribe a Japanee patient with incomplete congenital tationary night blindne (iCNB) with atypical retinal atrophy and kinetic viual field defect. METHOD: An ophthalmologic examination wa performed, and the CACNA1F gene wa analyzed by direct genomic equencing. REULT: The patient had a hemizygou Arg913top mutation in CACNA1F and had electroretinographic change that were typical of iCNB. The fundu had atrophic retinal leion around the inferior vacular arcade OU, and Goldmann kinetic perimetry howed relative cotoma in the correponding area. CONCLUION: Although mot patient with iCNB how eentially normal fundi without viual field defect, thi cae demontrated retinal atrophy aociated with viual field defect indicating a phenotypic heterogeneity induced by the CACNA1F mutation.