Genomes and Genes
Christian P Hamel
- Dominant optic atrophyGuy Lenaers
Institut des Neurosciences de Montpellier, U1051 de l INSERM, Université de Montpellier I et II, BP 74103, F 34091 Montpellier cedex 05, France
Orphanet J Rare Dis 7:46. 2012..The disease affects primary the retinal ganglion cells (RGC) and their axons forming the optic nerve, which transfer the visual information from the photoreceptors to the lateral geniculus in the brain...
- Extensive macular atrophy with pseudodrusen-like appearance: a new clinical entityChristian P Hamel
Centre Hospitalier Regional et Universitaire, Centre de Référence Maladies Sensorielles Génétiques, Montpellier, France
Am J Ophthalmol 147:609-20. 2009..To describe a previously unreported clinical entity of progressive extensive macular atrophy and pseudodrusen-like appearance in middle-aged patients...
- Homozygous mutation in MERTK causes severe autosomal recessive retinitis pigmentosaMohamed Ksantini
INSERM 1051, Institute for Neurosciences of Montpellier, Montpellier, France
Eur J Ophthalmol 22:647-53. 2012..Gene identification in retinitis pigmentosa is a prerequisite to future therapies. Accordingly, autosomal recessive retinitis pigmentosa families were genotyped to search for causative mutations...
- Combining gene mapping and phenotype assessment for fast mutation finding in non-consanguineous autosomal recessive retinitis pigmentosa familiesMaxime Hebrard
INSERM U 1051, Institute for Neurosciences of Montpellier, 80 rue Augustin Fliche, Montpellier Cedex 5, France
Eur J Hum Genet 19:1256-63. 2011..Only two affected individuals in each sibship were sufficient to lead to mutation identification by screening the best candidate gene selected by a combination of gene mapping and phenotype characterization...
- Relative frequencies of inherited retinal dystrophies and optic neuropathies in Southern France: assessment of 21-year data managementBeatrice Bocquet
CHRU Montpellier, Genetics of Sensory Diseases, Montpellier, France
Ophthalmic Epidemiol 20:13-25. 2013..Inherited retinal dystrophies (IRDs) and inherited optic neuropathies (IONs) are rare diseases defined by specific clinical and molecular features. The relative prevalence of these conditions was determined in Southern France...
- Systematic screening of BEST1 and PRPH2 in juvenile and adult vitelliform macular dystrophies: a rationale for molecular analysisIsabelle Meunier
Centre de Référence Maladies Sensorielles Génétiques, Hopital Gui de Chauliac, Montpellier, France
Ophthalmology 118:1130-6. 2011....
- Fatp1 deficiency affects retinal light response and dark adaptation, and induces age-related alterationsKarim Chekroud
INSERM U1051, Institute for Neurosciences of Montpellier, CHU St Eloi, Montpellier, France
PLoS ONE 7:e50231. 2012..These anomalies lead us to speculate that the absence of FATP1 accelerates the aging process...
- Novel KCNV2 mutations in cone dystrophy with supernormal rod electroretinogramSafouane Ben Salah
Genetics of Sensory Diseases and Department of Ophthalmology, Hospital of Montpellier, Montpellier, France
Am J Ophthalmol 145:1099-106. 2008..To describe patients with cone dystrophy and supernormal rod electroretinogram (ERG) and search for mutations in the recently described KCNV2 gene...
- Cataract as a phenotypic marker for a mutation in WFS1, the Wolfram syndrome geneSalah Mohamed Cherif Titah
CHRU Montpellier, Centre de Référence Genetic Sensory Diseases, Montpellier, France
Eur J Ophthalmol 22:254-8. 2012..The presence of a cataract has been variably mentioned in WS...
- A novel locus (CORD12) for autosomal dominant cone-rod dystrophy on chromosome 2q24.2-2q33.1Gaël Manes
INSERM U1051, Institute for Neurosciences of Montpellier, Montpellier, France
BMC Med Genet 12:54. 2011..To identify new genes responsible for these diseases, we have studied one large non consanguineous French family with autosomal dominant (ad) CRD...
- Screening for a canine model of choroideremia exclusively identifies nonpathogenic CHM variantsLorenne Robert
INSERM U 583, Institut des Neurosciences de Montpellier, Montpellier, France
Ophthalmic Res 45:155-63. 2011..These results suggest that a CHM dog model may not be viable, as is the case for mouse and zebrafish...
- Screening genes of the visual cycle RGR, RBP1 and RBP3 identifies rare sequence variationsMohamed Ksantini
Genetics of Sensory Diseases, Hospital of Montpellier, Montpellier, France
Ophthalmic Genet 31:200-4. 2010..It is likely that mutations in RGR, RBP3, and possibly RBP1 occur rarely in inherited retinal dystrophies...
- Simple and efficient: validation of a cotton wick electrode for animal electroretinographyKarim Chekroud
INSERM U583, Institute for Neurosciences of Montpellier, CHU Saint Eloi, Montpellier, France
Ophthalmic Res 45:174-9. 2011..The need of a simple and effective electrode type has led us to search the efficacy of different types of electrodes used in practice and compare them with the modified cotton wick electrode...
- Choroideremia: towards a therapyVasiliki Kalatzis
Institut National de la Santé et de la Recherche Médicale U1051, Institute for Neurosciences of Montpellier, Montpellier, France
Am J Ophthalmol 156:433-437.e3. 2013..To review what progress has been made towards the application of ocular gene therapy to prevent progressive vision loss in patients affected by choroideremia...