As a result of technical advances in recombinant DNA technology and nucleotide
sequencing, entire genome sequences have become available in the past decade and offer …

Bietti crystalline dystrophy (BCD) is a rare-inherited disease caused by mutations in the
CYP4V2 gene and characterized by the presence of multiple shimmering yellow-white …

Bietti's crystalline corneoretinal dystrophy (BCD) is a recessive degenerative eye disease
caused by germline mutations in the CYP4V2 gene. More than 80% of mutant alleles consist …

Bietti's crystalline dystrophy (BCD) is an incurable retinal disorder caused by the polypeptide
2 of cytochrome P450 family 4 subfamily V (CYP4V2) mutations. Patients with BCD present …

Light pollution by artificial light, might accelerate retinal diseases and circadian asynchrony.
The excess of light exposure is a growing problem in societies, so studies on the …

Drug metabolism and transport processes in the liver, intestine and kidney that affect the
pharmacokinetics and pharmacodynamics of therapeutic agents have been studied …

Bietti crystalline dystrophy (BCD) is an inherited retinal degenerative disease characterized
by crystalline deposits in the retina, followed by progressive atrophy of the retinal pigment …

Purpose: To characterize Bietti crystalline dystrophy (BCD) in different stages using multiple
imaging modalities. Methods: Sixteen participants clinically diagnosed as BCD were …

Abstract Objectives Bietti Crystalline Dystrophy (BCD) is an autosomal recessive
progressive retinal disease caused by mutations in CYP4V2. We have characterised the …

Aim The aim of the study was to describe the clinical and genetic features of 15 Italian
patients with Bietti crystalline dystrophy (BCD). Methods All study participants underwent a …