Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate
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- 1 February 2000
- journal article
- letter
- Published by Springer Nature in Nature Genetics
- Vol. 24 (2) , 127-131
- https://doi.org/10.1038/72777
Abstract
Hereditary human retinal degenerative diseases usually affect the mature photoreceptor topography by reducing the number of cells through apoptosis, resulting in loss of visual function1. Only one inherited retinal disease, the enhanced S-cone syndrome (ESCS), manifests a gain in function of photoreceptors. ESCS is an autosomal recessive retinopathy in which patients have an increased sensitivity to blue light; perception of blue light is mediated by what is normally the least populous cone photoreceptor subtype, the S (short wavelength, blue) cones2,3,4,5,6,7,8. People with ESCS also suffer visual loss, with night blindness occurring from early in life, varying degrees of L (long, red)- and M (middle, green)-cone vision, and retinal degeneration. The altered ratio of S- to L/M-cone photoreceptor sensitivity in ESCS may be due to abnormal cone cell fate determination during retinal development7. In 94% of a cohort of ESCS probands we found mutations in NR2E3 (also known as PNR), which encodes a retinal nuclear receptor recently discovered to be a ligand-dependent transcription factor9. Expression of NR2E3 was limited to the outer nuclear layer of the human retina. Our results suggest that NR2E3 has a role in determining photoreceptor phenotype during human retinogenesis.Keywords
This publication has 24 references indexed in Scilit:
- Molecular Genetics of Human Retinal DiseaseAnnual Review of Genetics, 1999
- Identification of a photoreceptor cell-specific nuclear receptorProceedings of the National Academy of Sciences, 1999
- The Enhanced S Cone Syndrome: An Analysis of Receptoral and Post-receptoral ChangesVision Research, 1996
- Enhanced S cone syndrome: Evidence for an abnormally large number of S conesVision Research, 1995
- S cone-driven but not S cone-type electroretinograms in the enhanced S cone syndromeExperimental Eye Research, 1991
- Relatively Enhanced S Cone Function in the Goldmann-Favre SyndromeAmerican Journal of Ophthalmology, 1991
- Diagnostic Clinical Findings of a New Syndrome with Night Blindness, Maculopathy, and Enhanced S Cone SensitivityAmerican Journal of Ophthalmology, 1990
- Rod-cone Dystrophy Associated with a Rod System Electroretinogram Obtained Under Photopic ConditionsOphthalmology, 1989
- Diagnostic features of the Favre-Goldmann syndrome.British Journal of Ophthalmology, 1976
- A propos de deux cas de dégénérescence hyaloïdéorétinienneOphthalmologica, 1958