Ocular findings in a Japanese family with an Arg41Trp mutation of the CRX gene.

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.