Literature DB >> 308060

Congenital stationary night blindness: an animal model.

D A Witzel, E L Smith, R D Wilson, G D Aguirre.   

Abstract

Electroretinographic studies of myctalopic Appaloosa horses demonstrated photopic and scotopic abnormalities similar to those in humans with congenital stationary night blindness (CSNB) of the Schubert-Bornschein type. The phototopic abnormalities consisted of reduced b-wave amplitudes and slower than normal b-wave implict time. The dark-adapted ERG's consisted of a simple negative potential; the scotopic b-wave was nonrecordable. However, a normal c-wave was present in the dark-adapted response. Histologic studies demonstrated no structural abnormalities that could explain the functional defect.

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Mesh:

Year:  1978        PMID: 308060

Source DB:  PubMed          Journal:  Invest Ophthalmol Vis Sci        ISSN: 0146-0404            Impact factor:   4.799


  20 in total

1.  ERGs in female carriers of incomplete congenital stationary night blindness (I-CSNB). A family report.

Authors:  Florence Rigaudière; Catherine Roux; Pierre Lachapelle; Serge G Rosolen; Pierre Bitoun; Annie Gay-Duval; Jean-François Le Gargasson
Journal:  Doc Ophthalmol       Date:  2003-09       Impact factor: 2.379

Review 2.  Coat color and coat color pattern-related neurologic and neuro-ophthalmic diseases.

Authors:  Aubrey A Webb; Cheryl L Cullen
Journal:  Can Vet J       Date:  2010-06       Impact factor: 1.008

3.  Diagnostic ophthalmology. Congenital stationary night blindness (CSNB).

Authors:  Lynne S Sandmeyer; Bruce H Grahn; Carrie B Breaux
Journal:  Can Vet J       Date:  2006-11       Impact factor: 1.008

4.  Congenital stationary night blindness with myopia: a clinico-pathologic study.

Authors:  I Watanabe; Y Taniguchi; K Morioka; M Kato
Journal:  Doc Ophthalmol       Date:  1986-06-16       Impact factor: 2.379

5.  Cone function in congenital nyctalopia.

Authors:  I M Siegel; V C Greenstein; W H Seiple; R E Carr
Journal:  Doc Ophthalmol       Date:  1987-03       Impact factor: 2.379

6.  Presentation of TRPM1-Associated Congenital Stationary Night Blindness in Children.

Authors:  Virginia Miraldi Utz; Wanda Pfeifer; Susannah Q Longmuir; Richard John Olson; Kai Wang; Arlene V Drack
Journal:  JAMA Ophthalmol       Date:  2018-04-01       Impact factor: 7.389

7.  Depolarizing bipolar cell dysfunction due to a Trpm1 point mutation.

Authors:  Neal S Peachey; Jillian N Pearring; Pasano Bojang; Matthew E Hirschtritt; Gwen Sturgill-Short; Thomas A Ray; Takahisa Furukawa; Chieko Koike; Andrew F X Goldberg; Yin Shen; Maureen A McCall; Scott Nawy; Patsy M Nishina; Ronald G Gregg
Journal:  J Neurophysiol       Date:  2012-08-15       Impact factor: 2.714

8.  Differential gene expression of TRPM1, the potential cause of congenital stationary night blindness and coat spotting patterns (LP) in the Appaloosa horse (Equus caballus).

Authors:  Rebecca R Bellone; Samantha A Brooks; Lynne Sandmeyer; Barbara A Murphy; George Forsyth; Sheila Archer; Ernest Bailey; Bruce Grahn
Journal:  Genetics       Date:  2008-07-27       Impact factor: 4.562

9.  TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness.

Authors:  Isabelle Audo; Susanne Kohl; Bart P Leroy; Francis L Munier; Xavier Guillonneau; Saddek Mohand-Saïd; Kinga Bujakowska; Emeline F Nandrot; Birgit Lorenz; Markus Preising; Ulrich Kellner; Agnes B Renner; Antje Bernd; Aline Antonio; Veselina Moskova-Doumanova; Marie-Elise Lancelot; Charlotte M Poloschek; Isabelle Drumare; Sabine Defoort-Dhellemmes; Bernd Wissinger; Thierry Léveillard; Christian P Hamel; Daniel F Schorderet; Elfride De Baere; Wolfgang Berger; Samuel G Jacobson; Eberhart Zrenner; José-Alain Sahel; Shomi S Bhattacharya; Christina Zeitz
Journal:  Am J Hum Genet       Date:  2009-11-05       Impact factor: 11.025

10.  A transient receptor potential-like channel mediates synaptic transmission in rod bipolar cells.

Authors:  Yin Shen; J Alexander Heimel; Maarten Kamermans; Neal S Peachey; Ronald G Gregg; Scott Nawy
Journal:  J Neurosci       Date:  2009-05-13       Impact factor: 6.167

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