Literature DB >> 1789082

Autosomal dominant stationary night-blindness. A large family rediscovered.

T Rosenberg1, M Haim, Y Piczenik, S E Simonsen.   

Abstract

In 1909, 2 years after the famous publication by Nettleship, a large family with congenital stationary night-blindness of the 'Nougaret type' was published by the Danish district surgeon, Sigurd Rambusch. In 1990 the 'Rambusch family', still resident in the original area, was sought out and rediscovered, at which time the reconstructed part of the pedigree comprised more than 200 affected persons in 11 generations. Dark adaptometry and electroretinography were performed on a few affected family members, including a descendant with a uniocular affection. The pedigree is presented and recordings of dark adaptation courses and electroretinographical responses from a few family members are demonstrated.

Entities:  

Mesh:

Year:  1991        PMID: 1789082     DOI: 10.1111/j.1755-3768.1991.tb02046.x

Source DB:  PubMed          Journal:  Acta Ophthalmol (Copenh)        ISSN: 0001-639X


  7 in total

1.  Riggs-type dominant congenital stationary night blindness: ERG findings, a new GNAT1 mutation and a systemic association.

Authors:  Michael F Marmor; Christina Zeitz
Journal:  Doc Ophthalmol       Date:  2018-07-26       Impact factor: 2.379

2.  Transgenic mice carrying the H258N mutation in the gene encoding the beta-subunit of phosphodiesterase-6 (PDE6B) provide a model for human congenital stationary night blindness.

Authors:  Stephen H Tsang; Michael L Woodruff; Lin Jun; Vinit Mahajan; Clyde K Yamashita; Robert Pedersen; Chyuan-Sheng Lin; Stephen P Goff; Thomas Rosenberg; Michael Larsen; Debora B Farber; Steven Nusinowitz
Journal:  Hum Mutat       Date:  2007-03       Impact factor: 4.878

3.  LED-generated multifocal ERG on- and off-responses in complete congenital stationary night blindness -- a case report.

Authors:  Dorothee Leifert; Margarita G Todorova; Chrisitan Prünte; Anja M Palmowski-Wolfe
Journal:  Doc Ophthalmol       Date:  2006-02-25       Impact factor: 2.379

4.  Night blindness with depolarizing pattern of ON/OFF response in electroretinogram: a case report.

Authors:  Tomoaki Usui; Naoyuki Tanimoto; Satoshi Ueki; Atsushi Miki; Mineo Takagi; Shigeru Hasegawa; Haruki Abe
Journal:  Doc Ophthalmol       Date:  2006-02-25       Impact factor: 2.379

5.  GNAT1 associated with autosomal recessive congenital stationary night blindness.

Authors:  Muhammad Asif Naeem; Venkata R M Chavali; Shahbaz Ali; Muhammad Iqbal; Saima Riazuddin; Shaheen N Khan; Tayyab Husnain; Paul A Sieving; Radha Ayyagari; Sheikh Riazuddin; J Fielding Hejtmancik; S Amer Riazuddin
Journal:  Invest Ophthalmol Vis Sci       Date:  2012-03-13       Impact factor: 4.799

6.  A mutation in SLC24A1 implicated in autosomal-recessive congenital stationary night blindness.

Authors:  S Amer Riazuddin; Amber Shahzadi; Christina Zeitz; Zubair M Ahmed; Radha Ayyagari; Venkata R M Chavali; Virgilio G Ponferrada; Isabelle Audo; Christelle Michiels; Marie-Elise Lancelot; Idrees A Nasir; Ahmad U Zafar; Shaheen N Khan; Tayyab Husnain; Xiaodong Jiao; Ian M MacDonald; Sheikh Riazuddin; Paul A Sieving; Nicholas Katsanis; J Fielding Hejtmancik
Journal:  Am J Hum Genet       Date:  2010-09-16       Impact factor: 11.025

Review 7.  Metabolic and Redox Signaling of the Nucleoredoxin-Like-1 Gene for the Treatment of Genetic Retinal Diseases.

Authors:  Emmanuelle Clérin; Myriam Marussig; José-Alain Sahel; Thierry Léveillard
Journal:  Int J Mol Sci       Date:  2020-02-27       Impact factor: 5.923

  7 in total

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