Novel Mutation in RLBP1 Gene in a Japanee Patient With Retiniti Punctata Albecen

Purpoe To report a novel mutation in the RLBP1 gene and optical coherence tomographic finding in a Japanee patient with retiniti punctata albecen. Deign Obervational cae report. Method The RLBP1 gene wa analyzed by direct genomic equencing. A complete ophthalmologic examination wa performed. Reult Compound heterozygou mutation in the RLBP1 gene were identified in the patient. The mutation were a novel miene Arg103Trp mutation and a miene Arg234Trp mutation, the cauative mutation of Bothnia dytrophy. The patient’ fundi howed numerou white dot with diffue retinal mottling and bilateral macular degeneration. Her viual function deteriorated progreively during 12-year follow-up. Optical coherence tomography demontrated decreaed retinal thickne, epecially the photoreceptor layer. Concluion A novel mutation in RLBP1 gene wa found in a Japanee patient with retiniti punctata albecen. Degenerative change of the outer retina were detected by optical coherence tomography.