Purpose: To identify the common mutations in Japanese patients with autosomal dominant retinitis pigmentosa(ADRP), and to show that the kind and frequency of mutations depend on race.
Methods: Previously reported mutations for ADRP are summarized, and the results of screening for 120 Japanese patients with ADRP of the human retinal bascin (FSCN 2) gene are presented. Clinical features are characterized by visual acuity, slit lamp biomicroscopy, fluorescein angiography, electroretinography, and kinetic visual field-testing.
Results and conclusion: The Pro 23 His and Pro 347 Leu mutations in the rhodopsin gene are representative mutations for ADRP in other countries, but the mutation in the rhodopsin gene is very rare in Japanese patients with ADRP. On the other hand, a novel 208 delG mutation in the FSCN 2 gene was identified in 14 patients from 4 Japanese families with ADRP. This mutation was found in 3.3% of patients with ADRP, which suggests that this mutation might be relatively common and characteristic in Japanese patients with ADRP.