September 2016
Volume 57, Issue 12
Open Access
ARVO Annual Meeting Abstract  |   September 2016
Genes encoding the extracellular matrix proteins SPACR (IMPG1) and SPACRCAN (IMPG2) cause macular vitelliform dystrophies
Author Affiliations & Notes
  • Christian P Hamel
    U1051, INSERM, Montpellier Cedex 05, France
    Genetic Sensory Diseases, CHU Montpellier, Montpellier, France
  • Footnotes
    Commercial Relationships   Christian Hamel, None
  • Footnotes
    Support  Fondation Valentin Haüy Grant 185-R14063FF-RAK14010FFA
Investigative Ophthalmology & Visual Science September 2016, Vol.57, No Pagination Specified. doi:
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      Christian P Hamel; Genes encoding the extracellular matrix proteins SPACR (IMPG1) and SPACRCAN (IMPG2) cause macular vitelliform dystrophies. Invest. Ophthalmol. Vis. Sci. 201657(12):.

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      © ARVO (1962-2015); The Authors (2016-present)

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Abstract

Presentation Description : The essential interactions between the RPE and photoreceptors take place through the interphotoreceptor matrix (IPM), whose integrity is critical for important retinal functions (visual cycle, phagocytosis, nutrient transport). Yet, little is known on how the structure of this interface is organized and how its disorganization leads to pathologies of vision. Through gene mapping and exome sequencing, we found that mutations in IMPG1 and IMPG2, encoding SPACR (SialoProtein Associated with photoreceptor Cones and Rods) and SPACRCAN (SialoProtein Associated with photoreceptor Cone and Rod proteoglyCANs), respectively, account for 8 % of cases of vitelliform macular dystrophies in their adult form. SPACR and SPACRCAN, which belong to the mucin family, scaffold the outer segments of rods and cones and are important for the maintenance of their structural features. Therefore, the formation of lipofuscin could be due in part to abnormal IPM structure, which may occur in many retinal diseases including AMD.

This is an abstract that was submitted for the 2016 ARVO Annual Meeting, held in Seattle, Wash., May 1-5, 2016.

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