A novel compound heterozygou mutation in the cellular retinaldehyde-binding protein gene (RLBP1) in a patient with retiniti punctata albecen

Purpoe To decribe a patient with retiniti punctata albecen (RPA) aociated with compound heterozygoity for two novel mutation in the RLBP1 encoding cellular retinaldehyde-binding protein (CRALBP). Deign Obervational cae report. Method The proband underwent a complete ophthalmic examination and leukocyte genomic DNA ample were obtained from him and hi parent. The RLBP1 exon were analyzed by direct equencing of PCR-amplified fragment. Reult The patient had a clinical phenotype uggetive of lowly progreive RPA, characterized by numerou yellow-white dot in the fundu. The RLBP1 equence analyi revealed a novel compound heterozygotic mutation of Gly145Ap and Ile200Thr tranmitted from the mother and father, repectively. Analyi of 100 control chromoome howed no individual with thee equence alteration. Concluion Only eight RLBP1 mutation have been reported to date, and here we decribe two novel mutation. Thee additional mutation will aid ongoing functional tudie and add to our undertanding of the molecular pathology pertaining to RLBP1-aociated retinopathie.