Literature DB >> 17109156

A teenager with nightblindness and cystic maculopathy: enhanced S cone syndrome (Goldmann-Favre syndrome).

Michael F Marmor1.   

Abstract

Poor night vision and pigmentary retinopathy are hallmarks of retinitis pigmentosa, but variations in the type of pigmentation and in the characteristics of the electroretinogram (ERG) can point to other diagnoses. The case below (enhanced S cone syndrome) is a good example of this, and demonstrates the diagnostic importance of clinical electrophysiology.

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Year:  2006        PMID： 17109156     DOI： 10.1007/s10633-006-9031-z

Source DB:  PubMed          Journal:  Doc Ophthalmol        ISSN： 0012-4486            Impact factor:   2.379


  6 in total

1.  Topography of cone electrophysiology in the enhanced S cone syndrome.

Authors:  M F Marmor; F Tan; E E Sutter; M A Bearse
Journal:  Invest Ophthalmol Vis Sci       Date:  1999-07       Impact factor: 4.799

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.  Large rod-like photopic signals in a possible new form of congenital night blindness.

Authors:  M F Marmor
Journal:  Doc Ophthalmol       Date:  1989-03       Impact factor: 2.379

4.  Relatively enhanced S cone function in the Goldmann-Favre syndrome.

Authors:  S G Jacobson; A J Román; M I Román; J D Gass; J A Parker
Journal:  Am J Ophthalmol       Date:  1991-04-15       Impact factor: 5.258

5.  SWS (blue) cone hypersensitivity in a newly identified retinal degeneration.

Authors:  S G Jacobson; M F Marmor; C M Kemp; R W Knighton
Journal:  Invest Ophthalmol Vis Sci       Date:  1990-05       Impact factor: 4.799

6.  Diagnostic clinical findings of a new syndrome with night blindness, maculopathy, and enhanced S cone sensitivity.

Authors:  M F Marmor; S G Jacobson; M H Foerster; U Kellner; R G Weleber
Journal:  Am J Ophthalmol       Date:  1990-08-15       Impact factor: 5.258
  6 in total
  5 in total

1.  Differential dimerization of variants linked to enhanced S-cone sensitivity syndrome (ESCS) located in the NR2E3 ligand-binding domain.

Authors:  Désirée von Alpen; Hoai Viet Tran; Nicolas Guex; Giulia Venturini; Francis L Munier; Daniel F Schorderet; Neena B Haider; Pascal Escher
Journal:  Hum Mutat       Date:  2015-04-27       Impact factor: 4.878

2.  Efficacy of topical dorzolamide for treatment of cystic macular lesions in a patient with enhanced S-cone syndrome.

Authors:  Mohamed A Genead; Gerald A Fishman; J Jason McAnany
Journal:  Doc Ophthalmol       Date:  2010-09-15       Impact factor: 2.379

3.  Nuclear receptor Rev-erb alpha (Nr1d1) functions in concert with Nr2e3 to regulate transcriptional networks in the retina.

Authors:  Nissa J Mollema; Yang Yuan; Austin S Jelcick; Andrew J Sachs; Désirée von Alpen; Daniel Schorderet; Pascal Escher; Neena B Haider
Journal:  PLoS One       Date:  2011-03-08       Impact factor: 3.240

4.  Developmental or degenerative--NR2E3 gene mutations in two patients with enhanced S cone syndrome.

Authors:  Nitin Udar; Kent Small; Meenal Chalukya; Rosamaria Silva-Garcia; Michael Marmor
Journal:  Mol Vis       Date:  2011-02-17       Impact factor: 2.367

5.  Genetic investigation of 211 Chinese families expands the mutational and phenotypical spectra of hereditary retinopathy genes through targeted sequencing technology.

Authors:  Zhouxian Bai; Yanchuan Xie; Lina Liu; Jingzhi Shao; Yuying Liu; Xiangdong Kong
Journal:  BMC Med Genomics       Date:  2021-03-29       Impact factor: 3.063
  5 in total

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