Literature DB >> 2789128

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

M F Marmor1.   

Abstract

A 10-year-old Persian girl has symptoms of congenital stationary night blindness and some drusen-like lesions in the region of the vascular arcades. Her electroretinogram shows no rod response to a weak stimulus, but a large (475 microV) slow scotopic response to a strong stimulus that is unchanged by photopic conditions (15 Fl background illumination). However, the response to flicker had the typical (smaller) amplitude of a cone signal. They may represent a new form of night blindness in which rod sensitivity is reduced so that there is no vision under dim conditions but rod function still persists under photopic conditions.

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Year:  1989        PMID: 2789128     DOI: 10.1007/bf00170975

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


  6 in total

1.  Fundus albipunctatus: a clinical study of the fundus lesions, the physiologic deficit, and the vitamin A metabolism.

Authors:  M F Marmor
Journal:  Doc Ophthalmol       Date:  1977-06-30       Impact factor: 2.379

2.  Photopic abnormalities in congenital stationary nightblindness.

Authors:  A E Krill; D Martin
Journal:  Invest Ophthalmol       Date:  1971-08

3.  Temporal aspects of the electroretinogram.

Authors:  E L Berson; P Gouras; M Hoff
Journal:  Arch Ophthalmol       Date:  1969-02

4.  Characteristic ERG-flicker anomaly in incomplete congenital stationary night blindness.

Authors:  Y Miyake; M Horiguchi; I Ota; N Shiroyama
Journal:  Invest Ophthalmol Vis Sci       Date:  1987-11       Impact factor: 4.799

5.  Familial foveal retinoschisis associated with a rod-cone dystrophy.

Authors:  K G Noble; R E Carr; I M Siegel
Journal:  Am J Ophthalmol       Date:  1978-04       Impact factor: 5.258

6.  The photopic electroretinogram in congenital stationary night blindness with myopia.

Authors:  P Lachapelle; J M Little; R C Polomeno
Journal:  Invest Ophthalmol Vis Sci       Date:  1983-04       Impact factor: 4.799

  6 in total
  6 in total

1.  Electroretinography and optical coherence tomography reveal abnormal post-photoreceptoral activity and altered retinal lamination in patients with enhanced S-cone syndrome.

Authors:  M Sustar; D Perovšek; I Cima; B Stirn-Kranjc; M Hawlina; J Brecelj
Journal:  Doc Ophthalmol       Date:  2015-02-07       Impact factor: 2.379

2.  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

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

Authors:  Michael F Marmor
Journal:  Doc Ophthalmol       Date:  2006-11-16       Impact factor: 2.379

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.  A hybrid photoreceptor expressing both rod and cone genes in a mouse model of enhanced S-cone syndrome.

Authors:  Joseph C Corbo; Constance L Cepko
Journal:  PLoS Genet       Date:  2005-08-05       Impact factor: 5.917

6.  A comprehensive analysis of sequence variants and putative disease-causing mutations in photoreceptor-specific nuclear receptor NR2E3.

Authors:  Atsuhiro Kanda; Anand Swaroop
Journal:  Mol Vis       Date:  2009-10-24       Impact factor: 2.367

  6 in total

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