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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
medicine
Novel TULP1 mutation causing leber congenital amaurosis or early onset retinal degeneration
Investigative Ophthalmology and Visual Science, Volume 48, No. 11, Year 2007
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Description
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. The 15 exons of TULP1 were sequenced. RESULTS. Seven of 30 examined family members were affected, including five with EORD and two with LCA. All patients had nystagmus, hemeralopia, mild myopia, and low visual acuity without photophobia. Fundus features were variable among EORD patients: typical spicular retinitis pigmentosa or clumped pigmented retinopathy with age-dependent macular involvement. A salt-and-pepper retinopathy with midperipheral retinal pigment epithelium (RPE) atrophy was present in the older patients with LCA, whereas the retina appeared virtually normal in the younger ones. Both scotopic and photopic electroretinograms were nondetectable. Fundus imaging revealed a perifoveal ring of increased fundus autofluorescence (FAF) in the proband, and optical coherence tomography disclosed a thinned retina, mainly due to photoreceptor loss. Linkage analysis identified a region of homozygosity on chromosome 6, region p21.3, and mutation screening revealed a novel 6-base in-frame duplication, in the TULP1 gene. CONCLUSIONS. Mutation in the TULP1 gene is a rare cause of LCA/EORD, with only 14 mutations reported so far. The observed intrafamilial phenotypic variability could be attributed to disease progression or possibly modifier alleles. This study provides the first description of FAF and quantitative reflectivity profiles in TULP1-related retinopathy. Copyright © Association for Research in Vision and Ophthalmology.
Authors & Co-Authors
Mataftsi, Asimina
Switzerland, Sion
Institute of Research in Ophthalmology
Switzerland, Lausanne
Université de Lausanne Unil
Greece, Thessaloniki
Aristotle University of Thessaloniki
Schorderet, Daniel F F.
Switzerland, Sion
Institute of Research in Ophthalmology
Switzerland, Lausanne
Université de Lausanne Unil
Switzerland, Lausanne
École Polytechnique Fédérale de Lausanne
Chachoua, Louisa
Algeria, Algiers
Chu Centre Hospitalier Universitaire D'hussein-dey
Boussalah, Myriam
Algeria, Tlemcen
Centre Hospitalo-universitaire dr Tidjani Damerdji de Tlemcen
Nouri, Mohamed T.
Algeria, Algiers
Centre Hospitalier et Universitaire de Béni-messous, Algiers
Barthelmes, Daniel
Switzerland, Bern
University of Bern
Borruat, François Xavier
Switzerland, Lausanne
Université de Lausanne Unil
Munier, Francis L.
Switzerland, Lausanne
Université de Lausanne Unil
Switzerland, Lausanne
Jules Gonin Eye Hospital
Statistics
Citations: 54
Authors: 8
Affiliations: 9
Identifiers
Doi:
10.1167/iovs.06-1013
ISSN:
01460404
Research Areas
Cancer
Genetics And Genomics
Health System And Policy
Study Approach
Quantitative