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Meeting Abstract (24)
Journal Articles (3)

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Investigative Ophthalmology & Visual Science (27)

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ARVO Annual Meeting Abstract (24)
Retina (2)
Biochemistry and Molecular Biology (1)

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Eye Anatomy and Disorders (3)
Genetics (3)
Retina (3)
Biochemistry and Molecular Biology (1)

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genes (2)
mutation (2)
catalysis (1)
codon nucleotides (1)
exudative age-related macular degeneration (1)
guanylate cyclase (1)
heterozygote (1)
leber's amaurosis (1)
mutation, nonsense (1)
proteins (1)

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ARVO Annual Meeting Abstract June 2015

Minimal post-operative anti-inflammatory drops following YAG laser capsulotomy

Andres Piscoya; Steve Gerber

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):676. doi:

ARVO Annual Meeting Abstract June 2015

Leber congenital amaurosis with early-onset severe macular atrophy and optic atrophy is likely pathognomonic of NMNAT1 mutations

Olivia Xerri; Isabelle Perrault; Sylvain Hanein; Nathalie Delphin; Lucas Fares-Taie; Sylvie Gerber; Olivier Roche; Arnold Munnich; Josseline Kaplan; Jean-Michel Rozet

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):2882. doi:

ARVO Annual Meeting Abstract June 2013

ALDH1A3 mutations cause recessive anophthalmia and microphthalmia

Lucas Fares Taie; Sylvie Gerber; Nicolas Chassaing; Jill Clayton-Smith; Eduardo Silva; Arnold Munnich; Patrick Calvas; Josseline Kaplan; Nicola Ragge; Jean-Michel Rozet

Invest. Ophthalmol. Vis. Sci.. 2013; 54(15):3363. doi:

ARVO Annual Meeting Abstract March 2012

Rd3 Mutations Are Responsible For Gucy2d-like Lca

Josseline Kaplan; Sylvain Hanein; Nathalie Delphin; Sylvie Gerber; Catherine Edelson; Nisrine Aboussair; Olivier Roche; Arnold Munnich; Isabelle Perrault; Jean-Michel Rozet

Invest. Ophthalmol. Vis. Sci.. 2012; 53(14):4535. doi:

ARVO Annual Meeting Abstract March 2012

Visual Acuity And Contrast Sensitivity Of Adult Zebrafish

Markus Tschopp; Christoph Tappeiner; Simon Gerber; Jasmin Balmer; Anna Jazwinska; Volker Enzmann

Invest. Ophthalmol. Vis. Sci.. 2012; 53(14):4800. doi:

ARVO Annual Meeting Abstract April 2010

Mental Retardation Associated With Retinitis Pigmentosa in the Xp11.3 Deletion Syndrome: ZNF674 in the Dock. Guilty or Innocent?

J. Kaplan; N. Delphin; D. Bonneau; X. Zanloghi; S. Gerber; J.-P. Bonnefont; J.-L. Dufier; O. Roche; J.-M. Rozet

Invest. Ophthalmol. Vis. Sci.. 2010; 51(13):4082. doi:

ARVO Annual Meeting Abstract April 2010

Leber Congenital Amaurosis Associated With Abnormalities of Respiratory Cilia

J.-M. Rozet; I. Perrault; J.-F. Papon; A. Coste; B. Louis; S. Hanein; L. Fares Taie; S. Gerber; E. Escudier; J. Kaplan

Invest. Ophthalmol. Vis. Sci.. 2010; 51(13):4500. doi:

ARVO Annual Meeting Abstract April 2009

Mutations in a Gene Encoding a Mitochondrial Protein as a First Cause of Recessively Inherited Simple Optic Atrophy

S. Hanein; I. Perrault; O. Roche; S. Gerber; B. Leroy; F. Meire; A. Munnich; J.-L. Dufier; J. Kaplan; J.-M. Rozet

Invest. Ophthalmol. Vis. Sci.. 2009; 50(13):2329. doi:

ARVO Annual Meeting Abstract May 2007

Spectrum of NPHP6 (CEP290) Mutations in Leber Congenital Amaurosis and Delineation of the Associated Phenotype

I. Perrault; N. Delphin; S. Hanein; S. Gerber; J.-L. Dufier; O. Roche; Hé. Dollfus; A. Munnich; J. Kaplan; J.-M. Rozet

Invest. Ophthalmol. Vis. Sci.. 2007; 48(13):1653. doi:

ARVO Annual Meeting Abstract May 2007

Morphological Abnormalities of the Mitochondrial Network in Fibroblasts of Patients Affected With Autosomal Dominant and Recessive Optic Neuropathies

J.-M. Rozet; S. Gerber; N. Khadom; A. Munnich; J. Kaplan

Invest. Ophthalmol. Vis. Sci.. 2007; 48(13):4413. doi:

ARVO Annual Meeting Abstract May 2006

Usher Syndrome Type 1a: From Myth to Reality

J. Kaplan; S. Gerber; D. Bonneau; A. Munnich; J.–L. Dufier; J.–M. Rozet

Invest. Ophthalmol. Vis. Sci.. 2006; 47(13):4605. doi:

ARVO Annual Meeting Abstract May 2006

Pilot Study of Patients Affected With Leber Congenital Amaurosis (LCA) Clinically Selected With Regard to the Previously Established Genotype–Phenotype Correlations

S. Hanein; I. Perrault; N. Delphin; S. Gerber; J.–L. Dufier; A. Munnich; J.–M. Rozet; J. Kaplan

Invest. Ophthalmol. Vis. Sci.. 2006; 47(13):1686. doi:

ARVO Annual Meeting Abstract May 2006

Uncommon Rearrangement and De Novo Mutation of the RPE65 Gene Associated With Leber Congenital Amaurosis (LCA)

I. Perrault; S. Hanein; N. Delphin; S. Gerber; J.–L. Dufier; J.–M. Rozet; J. Kaplan

Invest. Ophthalmol. Vis. Sci.. 2006; 47(13):1693. doi:

ARVO Annual Meeting Abstract May 2005

A Novel Mutation in the GUCY2D Gene Responsible for an Early–Onset Severe RP Different From the Usual GUCY2D–LCA Phenotype

J. Kaplan; I. Perrault; S. Hanein; S. Gerber; J.–L.L. Dufier; A. Munnich; J.–M.M. Rozet

Invest. Ophthalmol. Vis. Sci.. 2005; 46(13):1810. doi:

ARVO Annual Meeting Abstract May 2005

Prevalence of Retinal Dehydrogenase 12 (RDH12) Mutations in Leber Congenital Amaurosis and Genotype–Phenotype Correlations

I. Perrault; S. Hanein; S. Gerber; H. Dollfus; C. Hamel; J.–L.L. Dufier; A. Munnich; J.–M.M. Rozet; J. Kaplan

Invest. Ophthalmol. Vis. Sci.. 2005; 46(13):1816. doi:

ARVO Annual Meeting Abstract May 2004

LEBER CONGENITAL AMAUROSIS: COMPREHENSIVE SURVEY OF THE GENETIC HETEROGENEITY, REFINEMENT OF THE CLINICAL DEFINITION AND PHENOTYPE–GENOTYPE CORRELATIONS AS A STRATEGY FOR MOLECULAR DIAGNOSIS.

S. Hanein; I. Perrault; S. Gerber; G. Tanguy; J.–M. Rozet; J. Kaplan

Invest. Ophthalmol. Vis. Sci.. 2004; 45(13):4729. doi:

ARVO Annual Meeting Abstract May 2004

Two different retinal dystrophies accounted for by different CRB1 mutations in a single nuclear family.

J. Kaplan; G. Tanguy; S. Hanein; I. Perrault; S. Gerber; J. Rozet

Invest. Ophthalmol. Vis. Sci.. 2004; 45(13):4731. doi:

ARVO Annual Meeting Abstract May 2004

A first locus for isolated autosomal recessive optic atrophy (ROA1) maps to chromosome 8q.

F. Barbet; S. Gerber; J.–L. Dufier; A. Munnich; J. Rozet; J. Kaplan

Invest. Ophthalmol. Vis. Sci.. 2004; 45(13):4750. doi:

ARVO Annual Meeting Abstract May 2004

Cosegregation analysis of mutant ABCA4 allleles in families with both Stargardt disease (STGD) and age–related macular degeneration (AMD).

J. Rozet; D. Ducroq; S. Gerber; J.–L. Dufier; A. Munnich; J. Kaplan

Invest. Ophthalmol. Vis. Sci.. 2004; 45(13):1023. doi:

ARVO Annual Meeting Abstract May 2003

Autosomal Dominant Inheritance in a Family Affected with a Genuine Form of Leber Congenital Amaurosis (LCA)

I. Perrault; S. Hanein; S. Gerber; J. Rozet; D. Ducroq; F. Barbet; A. Munnich; J. Dufier; J. Kaplan

Invest. Ophthalmol. Vis. Sci.. 2003; 44(13):1492. doi:

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