Novel mutation in RLBP1 gene in a Japanese patient with retinitis punctata albescens

PURPOSE: To report a novel mutation in the RLBP1 gene and optical coherence tomographic findings in a Japanese patient with retinitis punctata albescens. DESIGN: Observational case report. METHODS: The RLBP1 gene was analyzed by direct genomic sequencing. A complete ophthalmologic examination was performed. RESULTS: Compound heterozygous mutations in the RLBP1 gene were identified in the patient. The mutations were a novel missense Arg103Trp mutation and a missense Arg234Trp mutation, the causative mutation of Bothnia dystrophy. The patient's fundi showed numerous white dots with diffuse retinal mottling and bilateral macular degeneration. Her visual function deteriorated progressively during 12-year follow-up. Optical coherence tomography demonstrated decreased retinal thickness, especially the photoreceptor layer. CONCLUSION: A novel mutation in RLBP1 gene was found in a Japanese patient with retinitis punctata albescens. Degenerative changes of the outer retina were detected by optical coherence tomography.