High-Throughput Approaches for the Genetic Diagnosis of Retinal Dystrophies

  • Esther Pomares
  • Gemma Marfany
  • Roser Gonzàlez-DuarteEmail author
Conference paper
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 723)


The genetic diagnosis of inherited retinal dystrophies has been deeply hampered by the extreme genetic and allelic heterogeneity of this group of disorders, with most families bearing rare or private pathogenic variants. Clinicians, patients, and the affected families are becoming aware of the benefits of a reliable molecular diagnosis: it facilitates genetic counseling and prenatal screening, improves the clinical diagnosis – providing prognostic information as genotype–phenotype correlations are being drawn, opens new venues for basic research, and guides therapy as the current clinical trials for retinal disorders are mainly gene-specific. The wide range of high-throughput techniques, now increasingly available and affordable for most laboratories, poses new questions to the clinical geneticists concerning the best approach to accurate genotyping on the basis of efficiency and cost-effectiveness. The comparison between available molecular diagnosis methodologies, in this rapidly moving field, leads to the conclusion that there is not an obvious preferential approach, but a combination of prioritized strategies is at present the optimal choice.


Retinal dystrophies Genetic testing Mutational screening SNP-cosegregation chip DNA microarrays Next-generation sequencing 



We would like to acknowledge the generous support from the patients, their families, and patient’s associations, particularly to Andrés Mayor (Fundaluce, Hospital Central de Asturias). E. P. is under contract by CIBERER. This study was supported by grants SAF2009-08079 (Ministerio de Ciencia e Innovación, Gobierno de España) and SGR2009-1427 (Generalitat de Catalunya), CIBERER (U718), Fundaluce and ONCE to R.G.-D. We apologize to all the colleagues whose contributions to the genetic testing of retinal dystrophies could not be quoted due to space limitations.


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Copyright information

© Springer Science+Business Media, LLC 2012

Authors and Affiliations

  • Esther Pomares
    • 1
    • 2
    • 3
  • Gemma Marfany
    • 1
    • 2
    • 3
  • Roser Gonzàlez-Duarte
    • 1
    • 2
    • 3
    Email author
  1. 1.Departament de GenèticaUniversitat de BarcelonaBarcelonaSpain
  2. 2.Institut de BiomedicinaUniversitat de BarcelonaBarcelonaSpain
  3. 3.CIBERER, Instituto de Salud Carlos IIIBarcelonaSpain

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