title: Genetic and phenotypic characteristics of four Chinese families with fundus albipunctatus.
abstract: Fundus albipunctatus (FA) is a rare autosomal recessive form of stationary night blindness characterized by the presence of white or white-yellow dots in the perimacular area and the periphery of the retina, with or without macular involvement. In this study, we examined four Chinese families with FA. Patients were given complete ophthalmic examinations, and blood samples were collected for DNA extraction. Three genes, RDH5, RLBP1 and RPE65, were screened by direct sequencing. Mutations in RDH5 were identified in three families and mutations in RPE65 were identified in one family. This is the second reported case of FA caused by mutations in RPE65.
authors.affiliation: Department of Opthalmology, Hebei Provincial Eye Hospital, Hebei, China.|Hebei Provincial Key laboratory of ophthalmology, Hebei, China.|Department of Opthalmology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences &Peking Union Medical College, Beijing, China.
authors.forename: Guoxing
authors.initials: G
authors.lastname: Yang
authors.affiliation: Department of Opthalmology, Hebei Provincial Eye Hospital, Hebei, China.
authors.forename: Zhiqiang
authors.initials: Z
authors.lastname: Liu
authors.affiliation: Department of Opthalmology, Hebei Provincial Eye Hospital, Hebei, China.
authors.forename: Shipeng
authors.initials: S
authors.lastname: Xie
authors.affiliation: Department of Opthalmology, Hebei Provincial Eye Hospital, Hebei, China.
authors.forename: Chengquan
authors.initials: C
authors.lastname: Li
authors.affiliation: Department of Opthalmology, Hebei Provincial Eye Hospital, Hebei, China.
authors.forename: Lina
authors.initials: L
authors.lastname: Lv
authors.affiliation: Department of Opthalmology, Hebei Provincial Eye Hospital, Hebei, China.
authors.forename: Minglian
authors.initials: M
authors.lastname: Zhang
authors.affiliation: Department of Opthalmology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences &Peking Union Medical College, Beijing, China.
authors.forename: Jialiang
authors.initials: J
authors.lastname: Zhao
mesh_terms: D000328:Adult; D000483:Alleles; D044466:Asian People / Q000235:genetics; D015415:Biomarkers; D002648:Child; D002675:Child, Preschool; D002681:China; D004252:DNA Mutational Analysis; D005190:Family; D005260:Female; D005451:Fluorescein Angiography; D056726:Genetic Association Studies / Q000379:methods; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D012164:Retinal Diseases / Q000175:diagnosis* / Q000235:genetics*; D041623:Tomography, Optical Coherence; D014794:Visual Fields; D055815:Young Adult
chemical_list: D015415:Biomarkers