title: New truncation mutation of the NR2E3 gene in a Japanese patient with enhanced S-cone syndrome.
abstract: OBJECTIVE
  The enhanced S-cone syndrome (ESCS) is a rare hereditary retinal degeneration that has enhanced short wavelength-sensitive cone (S-cone) functions. The longitudinal clinical course of this disease has been rarely reported, and the genetic aspects of ESCS have not been well investigated in the Japanese population. In this report, we present our clinical and genetic findings for 2 patients with ESCS.
  
  
  METHODS
  The patients were 2 unrelated Japanese men. Standard ophthalmic examinations and mutation screening for the NR2E3 gene were performed.
  
  
  RESULTS
  Patient 1 was a 36-year-old man, and his clinical findings were typical of ESCS. His decimal best-corrected visual acuity (BCVA) was 1.0 OD and 0.5 OS after removal of cataracts. Genetic investigations revealed a homozygous truncation frameshift, the p.I307LfsX33 mutation. Patient 2 was an 11-year-old boy when he was first examined by us. His clinical findings were typical of ESCS except for uveitis in the left eye. His decimal BCVA at the age of 39 years was maintained at 1.5 in each eye, although the retinal degeneration and visual field impairments had progressed during the follow-up period. The genetic investigations revealed homozygous mutations of p.R104Q in the NR2E3 gene.
  
  
  CONCLUSIONS
  The frameshift mutation, p.I307LfsX33, in the NR2E3 gene is a new causative mutation for ESCS. The clinical observations for patient 2 are the longest ever reported. The retinal degeneration caused by this mutation is slowly progressive, and these patients maintained good vision with maintenance of the foveal structure until their late thirties.
authors: Department of Ophthalmology, Kinki University Faculty of Medicine, 377-2 Ohno-Higashi, Osaka-Sayama, Osaka, 589-8511, Japan. kuniyoshi-kazuki@umin.net.
authors: Kazuki
authors: K
authors: Kuniyoshi
authors: Department of Ophthalmology, The Jikei University School of Medicine, Tokyo, Japan.
authors: Takaaki
authors: T
authors: Hayashi
authors: Department of Ophthalmology, Kinki University Faculty of Medicine, 377-2 Ohno-Higashi, Osaka-Sayama, Osaka, 589-8511, Japan.
authors: Hiroyuki
authors: H
authors: Sakuramoto
authors: Department of Ophthalmology, Kinki University Faculty of Medicine, 377-2 Ohno-Higashi, Osaka-Sayama, Osaka, 589-8511, Japan.
authors: Hiroshi
authors: H
authors: Mishima
authors: Department of Ophthalmology, The Jikei University School of Medicine, Tokyo, Japan.
authors: Hiroshi
authors: H
authors: Tsuneoka
authors: Laboratory of Visual Physiology, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, Tokyo, Japan.
authors: Kazushige
authors: K
authors: Tsunoda
authors: Division of Molecular and Cellular Biology, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, Tokyo, Japan.
authors: Takeshi
authors: T
authors: Iwata
authors: Department of Ophthalmology, Kinki University Faculty of Medicine, 377-2 Ohno-Higashi, Osaka-Sayama, Osaka, 589-8511, Japan.
authors: Yoshikazu
authors: Y
authors: Shimomura
mesh_terms: D000328:Adult; D002648:Child; D004247:DNA / Q000235:genetics*; D004252:DNA Mutational Analysis; D004596:Electroretinography; D015785:Eye Diseases, Hereditary / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism; D005451:Fluorescein Angiography; D005654:Fundus Oculi; D006801:Humans; D008297:Male; D009154:Mutation; D057093:Orphan Nuclear Receptors / Q000235:genetics* / Q000378:metabolism; D010375:Pedigree; D017949:Retinal Cone Photoreceptor Cells / Q000473:pathology*; D012162:Retinal Degeneration / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism; D014786:Vision Disorders / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism; D014792:Visual Acuity; D014794:Visual Fields
chemical_list: C403073:NR2E3 protein, human; D057093:Orphan Nuclear Receptors; D004247:DNA
keywords: Electroretinogram; Enhanced S-cone syndrome; Goldmann-Favre syndrome; NR2E3; Optical coherence tomography