April 2011
Volume 52, Issue 14
Free
ARVO Annual Meeting Abstract  |   April 2011
A Common Genetic Basis Controlling Stargardt's Macular dystrophy, Corpus Callosum and Hippocampal Development
Author Affiliations & Notes
  • Pierre Bitoun
    Medical Genetics,
    Jean Verdier Hospital , CHU Paris-Nord, Bondy, France
  • Eva Pipiras
    Histo-Embryo Cytogenetics,
    Jean Verdier Hospital , CHU Paris-Nord, Bondy, France
  • Brigitte Benzacken
    Histo-Embryo Cytogenetics,
    Jean Verdier Hospital , CHU Paris-Nord, Bondy, France
  • Andree Delahaye
    Histo-Embryo Cytogenetics,
    Jean Verdier Hospital , CHU Paris-Nord, Bondy, France
  • Footnotes
    Commercial Relationships  Pierre Bitoun, None; Eva Pipiras, None; Brigitte Benzacken, None; Andree Delahaye, None
  • Footnotes
    Support  None
Investigative Ophthalmology & Visual Science April 2011, Vol.52, 5391. doi:
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      Pierre Bitoun, Eva Pipiras, Brigitte Benzacken, Andree Delahaye; A Common Genetic Basis Controlling Stargardt's Macular dystrophy, Corpus Callosum and Hippocampal Development. Invest. Ophthalmol. Vis. Sci. 2011;52(14):5391.

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Abstract

Purpose: : We have been testing a cohort of 50 syndromic eye disease patients using CGH array for diagnostic research purposes.A Girl identified with congenital nystagmus, congenital macular dystrophy, corpus callosum agenesis, hippocampal hypoplasia and immune dysfunction born to a consanguineous family was studied

Methods: : Patients have signed informed consent to participate in this research. We have used the Agilent 135k platform to identify copy number variations not previously described in the Toronto Genome Variant database,Variants were validated by real time PCR and family was screened for 18 recessive macular dystrophy genes and ABCA4 sequencing . Patients were studied with ocular biomicrosopy, ERG , VEP , OCT , brain MRI and Multifocal ERG

Results: : This has allowed us to identify a candidate region that seems to act as a control region for expression of the ABCA4 stargardt's macular dystrophy , corpus callosum and Hippocampal development patterning and immune function against viral pathogens . Futher tests are in process to confirm segregation of ABCA4 variants IVS45+7G>A and S2255I within the pedigree and better understanding of the variants identified.

Conclusions: : CGH array is a useful tool to study rare forms of syndromic ocular anomalies. Stargardt's disease ABCA4 non-synonymous variants previously identified as possibly non-pathogenic can become pathogenic when associated with variants in the control region identified .

Keywords: macula/fovea • gene modifiers • neuro-ophthalmology: diagnosis 
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