Characterization of Severe Rod-Cone Dystrophy in a Consanguineous Family with a Splice Site Mutation in the MERTK Gene

Peter Charbel Issa (1) , Hanno J Bolz (2) , Inga Ebermann (2) , Erik Domeier (1) , Frank G Holz (1) , Hendrik P N Scholl (1)

1 Rheinische Friedrich-Wilhelms-Universität Bonn
2 University of Cologne

To characterize the ocular phenotype of a family segregating the splice site mutation c.2189+1G>T in the tyrosine kinase receptor gene MERTK.

Mots clés: Retina; Genetics; Dystrophy; MERTK; cone-rod dystrophy; rcs rat; retinitis pigmentosa

Peter Charbel Issa, Hanno J Bolz, Inga Ebermann, Erik Domeier, Frank G Holz, et al.. Characterization of Severe Rod-Cone Dystrophy in a Consanguineous Family with a Splice Site Mutation in the MERTK Gene. British Journal of Ophthalmology, 2009, 93 (7), pp.920-n/a. ⟨10.1136/bjo.2008.147397⟩. ⟨hal-00477817⟩