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Meeting Abstract (11)
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Investigative Ophthalmology & Visual Science (12)

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ARVO Annual Meeting Abstract (11)
Retina (1)

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Eye Anatomy and Disorders (1)
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Multidisciplinary Ophthalmic Imaging (1)
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electrooculography (1)
eye (1)
family (1)
genes (1)
mutation (1)
vitelliform dystrophy (1)

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ARVO Annual Meeting Abstract June 2015

Comprehensive molecular diagnosis of 160 Leber congenital amaurosis or Early Onset Severe Retinal Dystrophy by targeted next generation sequencing.

Isabelle Perrault; Sylvain Hanein; Christine Bole; Patrick Nitschke; Nathalie delphin; Olivia Xerri; Arnold Munnich; Josseline Kaplan; Jean-Michel Rozet

Invest. Ophthalmol. Vis. Sci.. 2015; 56(7 ):1252. 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 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:

Retina June 2011

The Spectrum of Subclinical Best Vitelliform Macular Dystrophy in Subjects with Mutations in BEST1 Gene

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Giuseppe Querques; Jennyfer Zerbib; Rossana Santacroce; Maurizio Margaglione; Nathalie Delphin; Lea Querques; Jean-Michel Rozet; Josseline Kaplan; Eric H. Souied
TAGS: electrooculography, genes, mutation, vitelliform dystrophy, eye, family
Invest. Ophthalmol. Vis. Sci.. 2011; 52(7):4678-4684. doi: https://doi.org/10.1167/iovs.10-6500

ARVO Annual Meeting Abstract April 2011

Iqcb1 (nphp5) Mutations In Leber Congenital Amaurosis With Very Late Nephronophthisis

Jean-Michel Rozet; Remi Salomon; Nathalie Delphin; Eduardo D. Silva; Helene Dollfus; Christian P. Hamel; Arnold Munnich; Sophie Saunier; Josseline Kaplan; Isabelle Perrault

Invest. Ophthalmol. Vis. Sci.. 2011; 52(14):5368. doi:

ARVO Annual Meeting Abstract April 2011

Unexpected Retinal Expression In A Three-generation Family Of Females Who Turned Out To Be Carriers Of X-linked Retinitis Pigmentosa

Josseline Kaplan; Nathalie Delphin; Stephanie Gobin; Jean-Paul Bonnefont; Arnold Munnich; Jean-Louis Dufier; Jean-Michel Rozet; Olivier Roche

Invest. Ophthalmol. Vis. Sci.. 2011; 52(14):5397. doi:

ARVO Annual Meeting Abstract April 2010

Spectrum of SPATA7 Mutations in Leber Congenital Amaurosis and Delineation of the Associated Phenotype

I. Perrault; S. Hanein; X. Gerard; N. Delphin; H. Dollfus; S. Defoort-Dhellemmes; J. Kaplan; O. Roche; J.-M. Rozet

Invest. Ophthalmol. Vis. Sci.. 2010; 51(13):3082. 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 May 2007

Frequency of RP2 and RPGR Mutations in Male Sibships and in Sporadic Male Patients Affected With Retinitis Pigmentosa

J. Kaplan; N. Delphin; V. Pelletier; Hé. Dollfus; J.-L. Dufier; O. Roche; A. Munnich; J.-M. Rozet

Invest. Ophthalmol. Vis. Sci.. 2007; 48(13):1649. 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 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:

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Online ISSN: 1552-5783

Investigative Ophthalmology & Visual Science
Journal of Vision
Translational Vision Science & Technology

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