ABSTRACT
Bietti crystalline corneoretinal dystrophy (BCD) is a common form of hereditary retinal degeneration in Chinese.Mutation of the cytochrome P450 4V2 (CYP4V2) gene,a novel family member of the cytochrome P450 genes on chromosome 4q35,has been identified in BCD patients,with the common mutation locus at c.802-8 _ 810dell7insGC (Exon7del),c.992A ＞ C (p.H331 P) and c.1091-2A ＞ G (Exon 9del).CYP4V2 is responsible for oxidation of various substrates in the metabolic pathway,especially ω-hydroxylase activity towards ω-3 polyunsaturated fatty acids (PUFAs).CYP4V2 appears to be the only CYP4 memeber at significant levels in retinal cells,and it may be a prominent contributor to local metabolism of PUFAs,mainly DHA (C22:6n-3),in retinal cells.To understand and investigate the main mechanism of CYP4V2 gene mutation causing BCD is important in the study of genetic diagnosis and genetic management of BCD.This review summarized the current advance in the genetic mechanism of BCD and function of CYP4V2 gene,elucidated the substrate specificity and unraveled the biochemical pathways that may impact function of CYP4V2 in BCD patients.
ABSTRACT
Fungal keratitis is the first common infectious corneal disease and has become the main cause of blindness in China.Along with the intensive explore for the pathogenic mechanisms,the significant progress has been achieved in the pharmacotherapeutics.For lowering its blindnessrate,it is imperative to the study on increasing therapeutic option and enhancing therapeutic efficacy.This review summarizes the current advance in clinical use in ophthalmology of novel antifungal agents,including new azoles such as voriconazole and posaconazole,and echinocandins such as caspofungin and micafungin.This article also reviews the progress of administration routes for the management of recalcitrant fungal keratitis,including subconjunctival,interstromal,intracameral and intravitreal injection.