Purpose: To characterize the ophthalmological features and clinical course of an autosomal dominant cone-rod dystrophy (CORD2) in a Japanese family with an Arg41Trp mutation in the CRX gene.
Methods: Mutation screening by direct sequencing was performed on 42 patients with cone-rod dystrophy. The clinical features of the patients were characterized by the visual acuity and by the findings of slit-lamp biomicroscopy, electroretinography, fluorescein angiography, and kinetic visual field testing.
Results: An Arg41Trp mutation in the CRX gene was identified in three members from three generations of one family with cone-rod dystrophy. Fundus examination demonstrated that the retinal dystrophy worsened with increasing age.
Conclusions: A heterozygous Arg41Trp mutation in the CRX gene can produce cone-rod dystrophy in Japanese patients. Clinical examination of patients of different ages demonstrated that there was a rapid progressive worsening of the disease with increasing age.