Literature DB >> 4058864

Studies in dominant optic atrophy.

H C Roggeveen, A P de Winter, L N Went.   

Abstract

The study of six families with dominant optic atrophy (DOA) originating from the neighbourhood of Leiden revealed that four could be connected through a common ancestor. A detailed analysis of 89 patients permitted a subdivision of the three remaining families into two groups: one with on the average a low visual acuity (less than 0.1) and the other with a moderately reduced visual acuity (+/- 0.35). Furthermore, differences in colour vision were observed. Genetic heterogeneity is thought to be at the root of these differences.

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Year:  1985        PMID: 4058864     DOI: 10.3109/13816818509007863

Source DB:  PubMed          Journal:  Ophthalmic Paediatr Genet        ISSN: 0167-6784


  3 in total

1.  Solving a 50 year mystery of a missing OPA1 mutation: more insights from the first family diagnosed with autosomal dominant optic atrophy.

Authors:  Nico Fuhrmann; Simone Schimpf; York Kamenisch; Beate Leo-Kottler; Christiane Alexander; Georg Auburger; Eberhart Zrenner; Bernd Wissinger; Marcel V Alavi
Journal:  Mol Neurodegener       Date:  2010-06-14       Impact factor: 14.195

2.  Clinical heterogeneity of dominant optic atrophy: the contribution of visual function investigations to diagnosis.

Authors:  G Del Porto; E M Vingolo; K Steindl; R Forte; A Iannaccone; E Rispoli; M R Pannarale
Journal:  Graefes Arch Clin Exp Ophthalmol       Date:  1994-12       Impact factor: 3.117

3.  Acute and late-onset optic atrophy due to a novel OPA1 mutation leading to a mitochondrial coupling defect.

Authors:  Yannick Nochez; Sophie Arsene; Naig Gueguen; Arnaud Chevrollier; Marc Ferré; Virginie Guillet; Valérie Desquiret; Annick Toutain; Dominique Bonneau; Vincent Procaccio; Patrizia Amati-Bonneau; Pierre-Jean Pisella; Pascal Reynier
Journal:  Mol Vis       Date:  2009-03-27       Impact factor: 2.367

  3 in total

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