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Novel TULP1 mutation causing leber congenital amaurosis or early onset retinal degeneration.
Invest Ophthalmol Vis Sci
November 2007
IRO (Institute of Research in Ophthalmology), Sion, Switzerland.
Purpose: To report a large, consanguineous Algerian family affected with Leber congenital amaurosis (LCA) or early-onset retinal degeneration (EORD).
Methods: All accessible family members underwent a complete ophthalmic examination, and blood was obtained for DNA extraction. Homozygosity mapping was performed with markers flanking 12 loci associated with LCA.