PURPOSE. To characterize the clinical features of 14 Japanese patients with
autosomal dominant retinitis pigmentosa (ADRP) who were found to have a mu
tation in the FSCN2 gene.
METHODS. Mutation screening by single-strand conformation polymorphism (SSC
P) was performed in 120 unrelated patients with ADRP, 200 unrelated patient
s with autosomal recessive retinitis pigmentosa (ARRP), and 100 patients wi
th simplex RP (SRP). The DNA fragment that showed abnormal mobility on SSCP
was sequenced. The clinical features of these patients were determined by
visual acuity, slit lamp biomicroscopy, electroretinography, fluorescein an
giography, and kinetic visual field testing.
RESULTS. A novel 208delG mutation in the FSCN2 gene was identified in 14 pa
tients from four unrelated families with ADRP. The ophthalmic findings were
typical of RP.
CONCLUSIONS. The findings show that a 208delG mutation in the FSCN2 gene pr
oduces ADRP. This mutation was found in 3.3% of the patients with ADRP in J
apan, which suggests that it may be relatively common in Japanese patients