Literature DB >> 21686439

The enhanced S-cone syndrome in children.

Arif O Khan1, Mohammad Aldahmesh, Brian Meyer.   

Abstract

The enhanced S-cone syndrome (ESCS), a rare retinal degenerative disease often associated with NR2E3 mutation, is due to increased numbers of S-cones at the expense of other photoreceptors or miswiring distal to the photoreceptors. Paediatric ESCS and its differing clinical features (as opposed to adult ESCS) is the subject of this report.

Entities:  

Year:  2009        PMID： 21686439      PMCID： PMC3028478          DOI： 10.1136/bcr.10.2008.1163

Source DB:  PubMed          Journal:  BMJ Case Rep        ISSN： 1757-790X


  6 in total

1.  Giving in to the blues.

Authors:  C Cepko
Journal:  Nat Genet       Date:  2000-02       Impact factor: 38.330

2.  Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate.

Authors:  N B Haider; S G Jacobson; A V Cideciyan; R Swiderski; L M Streb; C Searby; G Beck; R Hockey; D B Hanna; S Gorman; D Duhl; R Carmi; J Bennett; R G Weleber; G A Fishman; A F Wright; E M Stone; V C Sheffield
Journal:  Nat Genet       Date:  2000-02       Impact factor: 38.330

3.  Recessive NRL mutations in patients with clumped pigmentary retinal degeneration and relative preservation of blue cone function.

Authors:  Koji M Nishiguchi; James S Friedman; Michael A Sandberg; Anand Swaroop; Eliot L Berson; Thaddeus P Dryja
Journal:  Proc Natl Acad Sci U S A       Date:  2004-12-09       Impact factor: 11.205

4.  Excess cone cell proliferation due to lack of a functional NR2E3 causes retinal dysplasia and degeneration in rd7/rd7 mice.

Authors:  N B Haider; J K Naggert; P M Nishina
Journal:  Hum Mol Genet       Date:  2001-08-01       Impact factor: 6.150

5.  Mutation analysis of NR2E3 and NRL genes in Enhanced S Cone Syndrome.

Authors:  Alan F Wright; Adam C Reddick; Sharon B Schwartz; Julie S Ferguson; Tomas S Aleman; Ulrich Kellner; Bernhard Jurklies; Andreas Schuster; Eberhart Zrenner; Bernd Wissinger; Alan Lennon; Xinhua Shu; Artur V Cideciyan; Edwin M Stone; Samuel G Jacobson; Anand Swaroop
Journal:  Hum Mutat       Date:  2004-11       Impact factor: 4.878

6.  Shared mutations in NR2E3 in enhanced S-cone syndrome, Goldmann-Favre syndrome, and many cases of clumped pigmentary retinal degeneration.

Authors:  Dror Sharon; Michael A Sandberg; Rafael C Caruso; Eliot L Berson; Thaddeus P Dryja
Journal:  Arch Ophthalmol       Date:  2003-09
  6 in total
  1 in total

1.  MULTIMODAL EVIDENCE OF TYPE 3 NEOVASCULARIZATION IN ENHANCED S-CONE SYNDROME.

Authors:  Ramiro S Maldonado; Wadih M Zein; Catherine Cukras
Journal:  Retin Cases Brief Rep       Date:  2021-11-01
  1 in total

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