title: Autosomal recessive cone-rod dystrophy associated with compound heterozygous mutations in the EYS gene.
abstract: BACKGROUND
  EYS mutations have been identified only in patients with autosomal recessive retinitis pigmentosa (arRP). This study was conducted to describe clinical and genetic features of a Japanese patient with autosomal recessive cone-rod dystrophy (arCRD) and EYS mutations.
  
  
  METHODS
  We performed complete ophthalmic examinations including full-field electroretinography (ERG). Genetic analysis using whole-exome sequencing and Sanger sequencing was performed to identify the disease-causing mutation in a 31-year-old male patient.
  
  
  RESULTS
  At the initial visit, the patient's decimal best-corrected visual acuity (BCVA) was 0.9 and 0.6 in his right and left eyes, respectively. Funduscopy indicated retinal degenerations were predominantly affected within the vascular arcades and preserved retinal vessels in the mid-periphery in both eyes. Visual field testing showed there were relative central scotomas and preserved peripheral visual fields in both eyes. ERG indicated there was a decreased pattern for both the rod and cone responses. At the age of 36 years, his BCVA decreased to 0.2 in both eyes. Optical coherence tomography showed marked retinal thinning of the macular regions in both eyes. Genetic analysis identified compound heterozygous truncating mutations (p.Y2935X and p.S1653KfsX2) in the EYS gene. His unaffected parents were heterozygous for each mutation.
  
  
  CONCLUSIONS
  Our results demonstrated that EYS mutations can be the cause of not only arRP but also arCRD. Our findings extend the phenotypic spectrum of patients with EYS mutations.
authors.affiliation: Division of Molecular and Cellular Biology, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, Tokyo, Japan.
authors.forename: Satoshi
authors.initials: S
authors.lastname: Katagiri
authors.forename: Masakazu
authors.initials: M
authors.lastname: Akahori
authors.forename: Takaaki
authors.initials: T
authors.lastname: Hayashi
authors.forename: Kazutoshi
authors.initials: K
authors.lastname: Yoshitake
authors.forename: Tamaki
authors.initials: T
authors.lastname: Gekka
authors.forename: Kazuho
authors.initials: K
authors.lastname: Ikeo
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Tsuneoka
authors.forename: Takeshi
authors.initials: T
authors.lastname: Iwata
mesh_terms: D000328:Adult; D004252:DNA Mutational Analysis; D004596:Electroretinography; D005136:Eye Proteins / Q000235:genetics*; D005451:Fluorescein Angiography; D005808:Genes, Recessive; D006801:Humans; D008297:Male; D009154:Mutation; D009887:Ophthalmoscopy; D010375:Pedigree; D012174:Retinitis Pigmentosa / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D012607:Scotoma / Q000175:diagnosis; D041623:Tomography, Optical Coherence; D014792:Visual Acuity / Q000502:physiology; D058609:Visual Field Tests; D014794:Visual Fields / Q000502:physiology
chemical_list: C533105:EYS protein, human; D005136:Eye Proteins