A novel mutation in the CYP4V2 gene in a Chinese patient with Bietti's crystalline dystrophy

Bietti crystalline corneoretinal dystrophy (BCD, MIM 210370) is a type of hereditary retinal disorder which commonly occurs in China. It is known that mutations in the CYP4V2 gene result in BCD. The purpose of this study was to investigate the case of a Chinese family and characterize the polymorphisms of the CYP4V2 gene. A 29-year-old male (the son of a Chinese family) with typical clinical symptoms of BCD and his family were recruited into this study. Ophthalmologic examination, including best-corrected visual acuity, slit-lamp, and fundus examination with dilated pupils, was conducted to determine the clinical characteristics of the whole family. The entire coding region and adjacent intronic sequences of 11 coding regions of the CYP4V2 gene of the whole family were then amplified by polymerase chain reaction and sequenced. Our results show that the son had typical clinical features of BCD. His bilateral decimal visual acuity was 0.06 (left eye) and 0.01 (right eye). Bilateral crystal-like deposits were found in the posterior pole of his fundus, and differing extent of atrophy of the retinal pigment epithelium, and carpet-like retinal degeneration along with numerous tiny glittering crystals were also clearly observed. However, such characteristics were not found on the fundus of his parents' eyes. Five mutations within the CYP4V2 gene (c.64C>G, c.775C>A, c.810T>G, c.1091-2A>G, and c.1399T>C) were identified in the son. Among the five mutations, four had previously been reported and the c.1399T>C was discovered for the first time. This novel mutation causes an amino acid substitution (C467R) in the CYP4V2 protein, but it was not detected in the parents. As there is no apparent relationship in genotype-phenotype correlation between the CYP4V2 gene and the occurrence of BCD, this novel mutation may be a possible cause that could induce the clinical phenotype of BCD.