title: Fundus albipunctatus: novel mutations and phenotypic description of Israeli patients.
abstract: OBJECTIVE
  To characterize the genetic defects associated with fundus albipunctatus (FAP) in patients in Israel.
  
  
  METHODS
  Twenty patients with FAP from diverse ethnicities underwent ophthalmic and electroretinogram tests following the International Society for Clinical Electrophysiology of Vision protocol. Genomic DNA was extracted from peripheral blood. Mutation analysis of the 11-cis retinol dehydrogenase (RDH5) gene was performed with direct sequencing of PCR-amplified exons.
  
  
  RESULTS
  Four novel RDH5 gene mutations were identified. Of them, the null mutations c.343C>T (p.R54X) and c.242delTGCC were most prevalent. Macular involvement was present in two patients who carry different mutation types.
  
  
  CONCLUSIONS
  Mutation analysis of the RDH5 gene in the present series revealed four novel mutations and a previously reported one. No significant genotype-phenotype correlation was found.
authors: Department of Ophthalmology, Assaf Harofeh Medical Center, Zerifin, Israel. eranpras@gmail.com
authors: Eran
authors: E
authors: Pras
authors: Elon
authors: E
authors: Pras
authors: Haike
authors: H
authors: Reznik-Wolf
authors: Dror
authors: D
authors: Sharon
authors: Svetlana
authors: S
authors: Raivech
authors: Yaniv
authors: Y
authors: Barkana
authors: Almogit
authors: A
authors: Abu-Horowitz
authors: Rotenstreich
authors: R
authors: Ygal
authors: Eyal
authors: E
authors: Banin
mesh_terms: D000293:Adolescent; D000328:Adult; D000429:Alcohol Oxidoreductases / Q000235:genetics*; D018912:Arabs / Q000235:genetics*; D001483:Base Sequence; D002648:Child; D004596:Electroretinography; D015785:Eye Diseases, Hereditary; D005260:Female; D005654:Fundus Oculi; D040181:Genetic Diseases, X-Linked; D005838:Genotype; D006801:Humans; D007557:Israel; D007585:Jews / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D009216:Myopia / Q000208:ethnology / Q000235:genetics*; D009755:Night Blindness / Q000208:ethnology / Q000235:genetics*; D010641:Phenotype
chemical_list: D000429:Alcohol Oxidoreductases; C105846:retinol dehydrogenase 5