Literature DB >> 16637830

Developments in molecular genetics and electrophysiology in inherited retinal disorders.

Sten Andréasson1.   

Abstract

Retinitis pigmentosa is said to be the most frequent reason for severe visual handicap among young people in Scandinavia today. Developments in the fields of electrophysiology and molecular genetics have increased our understanding of the pathophysiology of these disorders and have also improved our clinical competence, leading to a better understanding of the patient's visual handicap and his or her prognosis. This represents the first step towards fulfilling our plan for the future, which is ultimately to cure blindness caused by the different forms of hereditary retinal degeneration. This review is based on 20 years of research at the Department of Ophthalmology in Lund.

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Year:  2006        PMID: 16637830     DOI: 10.1111/j.1600-0420.2006.00657.x

Source DB:  PubMed          Journal:  Acta Ophthalmol Scand        ISSN: 1395-3907


  2 in total

1.  Genetic networks in the mouse retina: growth associated protein 43 and phosphatase tensin homolog network.

Authors:  Natalie E Freeman; Justin P Templeton; William E Orr; Lu Lu; Robert W Williams; Eldon E Geisert
Journal:  Mol Vis       Date:  2011-05-25       Impact factor: 2.367

2.  A missense mutation in the nuclear localization signal sequence of CERKL (p.R106S) causes autosomal recessive retinal degeneration.

Authors:  Manir Ali; Vedam Lakshmi Ramprasad; Nagasamy Soumittra; Moin D Mohamed; Hussain Jafri; Yasmin Rashid; Michael Danciger; Martin McKibbin; Govindasamy Kumaramanickavel; Chris F Inglehearn
Journal:  Mol Vis       Date:  2008-10-30       Impact factor: 2.367

  2 in total

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