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Purpose  To investigate the clinical features and cytochrome P450 family 4 subfamily V polypeptide 2 ( CYP4V2 ) gene mutations in 14 Chinese families with Bietti crystalline dystrophy (BCD).    Methods  Seventeen patients from 14 unrelated Chinese families with BCD were recruited for complete clinical ophthalmic examination and genetic study. The 11 exons of  CYP4V2  were amplified from genomic DNA of all patients and their family members by polymerase chain reaction (PCR) and then sequenced. Exons of  TIMP3  were also sequenced in BCD patient associated with choroidal neovascularization (CNV). One hundred and seventy unrelated healthy Chinese subjects were screened for mutations in  CYP4V2 .    Results  All 17 patients with BCD had mutations in  CYP4V2 ; one of these mutations was novel (c.219T>A, p.F73L) and four other mutations had been reported. The p.F73L mutation was a commonly detected mutation in our study (seven out of 34 alleles), either in the homozygous state or in the heterozygous state. Among the patients, considerable phenotypic variability was detected, both within and between families. Screening of  TIMP3  did not find any mutation in the BCD patient associated with CNV.    Conclusion  The novel  CYP4V2  c.219T>A (p.F73L) mutation may be another recurrent mutation in Chinese patients with BCD. Our study expands the mutation spectrum of  CYP4V2  and characterizes novel genotype–phenotype associations in Chinese patients with BCD.

Molecular Analysis and Phenotypic Study in 14 Chinese Families with Bietti Crystalline Dystrophy