Bernard Arnaud

Hôpital Gui de Chauliac

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i-10 index

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Christian P. Hamel

Inserm

Mireille Claustres

Université de Montpellier

Jacques Demaille

Institut de Génétique Moléculaire de Montpellier

Corinne Bareil

Institut de Génétique Moléculaire de Montpellier

Jean‐Michel Griffoin

Inserm

Clair‐Florent Schmitt‐Bernard

Institut de Génétique Humaine

Christian Bazalgette

Laboratoire National de Référence

F. Marlhens

Inserm

Max Villain

Hôpital Gui de Chauliac

ÀA

Àngel Argilés

Université de Montpellier

Cooperative Institutions

Inserm

Université de Montpellier

Centre National de la Recherche Scientifique

Centre Hospitalier Universitaire de Montpellier

Hôpital Saint Eloi

Hôpital Gui de Chauliac

Institute for Neurosciences of Montpellier

Centre de Référence Déficits Immunitaires Héréditaires

Centre Hospitalier Universitaire de Lille

Hôpital Arnaud de Villeneuve

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RRH, Encoding the RPE-Expressed Opsin-Like Peropsin, Is Not Mutated in Retinitis Pigmentosa and Allied Diseases

Ophthalmic Genetics (2007)

Mohamed Ksantini Audrey Sénéćhal Ghyslaine Humbert Bernard Arnaud Christian P. Hamel

Many genes from retinoid metabolism cause retinitis pigmentosa. Peropsin, an opsin-like protein with unknown function, is specifically expressed in apical retinal pigment epithelium microvilli. Since rhodopsin and RGR, another opsin-like protein, cause retinitis pigmentosa, we used D-HPLC to screen for the peropsin gene RRH in 331 patients (288 with retinitis pigmentosa and 82 with other retinal dystrophies). We found 13 nonpathogenic variants only, among which a c.730_731delATinsG that truncates the last two transmembrane-spanning fragments and the Lys284 required for retinol binding, but does not segregate with the disease phenotype. We conclude that RRH is not a frequent gene in retinitis pigmentosa.

Opsin

10.1080/13816810701202052

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Citations (2)

Homozygous Deletion Related to Alu Repeats inRLBP1Causes Retinitis Punctata Albescens

Investigative Ophthalmology & Visual Science (2006)

Ghyslaine Humbert Cécile Delettre Audrey Se ́ne ́chal Ce ́cile Bazalgette Abdelhamid Barakat

Retinitis punctata albescens (RPA) is an infrequently occurring form of autosomal recessive (and rarely dominant) retinal dystrophy featuring early-onset severe night blindness and tiny, dotlike, white deposits in the fundus. RPA is associated mostly with mutations in RLBP1 and occasionally in RHO, RDS, and RDH5. In this study, mutations were sought in RLBP1, which encodes the retinol binding protein CRALBP in patients with typical RPA.Clinical investigation included funduscopy, visual field testing, electroretinogram recording, and adaptometry. The 7 coding exons (3-9) of RLBP1 and the 15th (last) exon of ABDH2 were PCR amplified and sequenced. Long-distance PCR and cloning of genomic DNA were performed to characterize the deletion.The study involved a 24-year-old Moroccan patient with typical RPA, born of first-cousin parents. He carried a 7.36-kb homozygous deletion encompassing the last 3 exons of RLBP1 (7, 8, and 9) and part of the intergenic region between RLBP1 and ABHD2, which lies downstream of RLBP1. This deletion abolishes the retinal binding site of CRALBP. The telomeric breakpoint of the deletion (in RLBP1 intron 6) is embedded in an Alu element, whereas the centromeric breakpoint (in the intergenic region) lies between two Alu elements placed in the opposite orientation.Because of the high density of Alu elements in RLBP1, a systematic search should be made for deletions in this gene when one or both alleles lack point mutations, in the case of RPA or flecked retinal dystrophy.

Alu element

Breakpoint

Intergenic region

10.1167/iovs.05-1488

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Citations (38)

Mutations in RPE65 cause Leber's congenital amaurosis

Nature Genetics (1997)

F. Marlhens Corinne Bareil Jean‐Michel Griffoin Eberhart Zrenner P Amalric

RPE65

Amaurosis

Cis-trans-Isomerases

10.1038/ng1097-139

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Citations (602)

In Vitro Creation of Amyloid Fibrils from Native and Arg124Cys Mutated βIGH3(110–131) Peptides, and Its Relevance for Lattice Corneal Amyloid Dystrophy Type I

Biochemical and Biophysical Research Communications (2000)

Clair‐Florent Schmitt‐Bernard Alain Chavanieu Jean Derancourt Bernard Arnaud Jacques Demaille

Amyloid (mycology)

10.1006/bbrc.2000.2955

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Citations (29)

Segregation of a mutation in CNGB1 encoding the β-subunit of the rod cGMP-gated channel in a family with autosomal recessive retinitis pigmentosa

Human Genetics (2001)

Corinne Bareil Christian Hamel Valérie Delague Bernard Arnaud Jacques Demaille

Genetic linkage

Locus heterogeneity

Candidate gene

10.1007/s004390100496

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Citations (118)

Extensive Macular Atrophy with Pseudodrusen-like Appearance: A New Clinical Entity

American Journal of Ophthalmology (2009)

Christian P. Hamel Isabelle Meunier Carl Arndt Safouane Ben Salah S. Lopez

Geographic atrophy

10.1016/j.ajo.2008.10.022

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Citations (52)

Retinal Electrophysiological Results in Patients Receiving Lamotrigine Monotherapy

Epilepsia (2005)

Carl Arndt Jeremie Husson Philippe Derambure Jean Hache Bernard Arnaud

Summary: Purpose: To evaluate the effects on vision in patients receiving lamotrigine (LTG) monotherapy. Methods: Twenty‐four consecutive patients taking LTG for partial seizures were referred for a routine ophthalmologic examination including visual acuity testing, tonometry, slit lamp, and fundus examination. Automated kinetic perimetry, electrooculogram (EOG), and electroretinogram were performed after informed consent was obtained. Results: In 18 patients finally included, the clinical ophthalmologic examination showed no abnormality. Four patients complained of blurring; among them, one patient had a visual field constriction in both eyes, which, however, was of unclear clinical significance (poor compliance) and a reduced light/dark ratio of the electrooculogram. One other patient with blurred vision had a reduced EOG, but the visual field was normal. Two patients had a reduced EOG but no visual symptoms. Considering the whole group of patients receiving LTG therapy, the light/dark ratio of the EOG was reduced in a dose‐dependent fashion (p < 0.0001). The electroretinogram was normal in all patients. Conclusions: No irreversible visual field impairment in patients treated with LTG was encountered, although a dose‐dependent retinal toxicity may have been present. The exact cellular mechanism of the electrophysiologic changes in patients taking LTG remain to be explained.

Fundus (uterus)

Abnormality

Blurred vision

Electroretinography

10.1111/j.1528-1167.2005.43204.x

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Citations (18)

X-linked retinoschisis with a novel substitutive amino acid (P193S) in XLRS1

Human Mutation (1999)

Pierre-Andr� Duval F. Marlhens Jean‐Michel Griffoin P. Millet Bernard Arnaud

Retinoschisis

10.1002/(sici)1098-1004(1999)13:3<259::aid-humu18>3.0.co;2-w

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Citations (1)

Erythrocyte Deformability Measurements in Patients with Glaucoma

Journal of Glaucoma (1993)

Andr e Mary Isabelle Serre Jean-Fr d ric Brun Bernard Arnaud C. Bonne

Erythrocyte deformability and aggregability, fibrinogen plasma level, and hematocrit were measured in patients with primary open-angle glaucoma and in age-matched control subjects. Only one parameter, red blood cell rigidity, as evaluated by the Hanss filtration technique, was found significantly elevated in glaucoma patients. This erythrocyte abnormality, which corroborates previous data on blood viscosity, could be an important factor in the pathogenesis of optic nerve damage and could support the hypothesis of a primary oxidative stress in glaucoma.

Erythrocyte deformability

Hyperviscosity

Hemorheology

Pathogenesis

Erythrocyte aggregation

Abnormality

Red Cell

10.1097/00061198-199300230-00002

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Citations (29)

A novel CACNA1F mutation in a french family with the incomplete type of X-linked congenital stationary night blindness

American Journal of Ophthalmology (2003)

Frank Jacobi Christian Hamel Bernard Arnaud Nikolaus Blin Martina Broghammer

10.1016/s0002-9394(02)02109-8

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Citations (22)