Sophie Valleix

Paris, France

Last Updated: 09/26/2026

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Found 44 publications

Congenital aniridia with microphthalmia and cataract as unusual ocular features in RAB3GAP1-related Warburg micro syndrome.

Congenital aniridia with microphthalmia and cataract as unusual ocular features in RAB3GAP1-related Warburg micro syndrome.

Journal: Journal francais d'ophtalmologie

Published: February 03, 2026

National protocol for the diagnosis and management of Axenfeld-Rieger syndrome: Summary for the primary care physician

National protocol for the diagnosis and management of Axenfeld-Rieger syndrome: Summary for the primary care physician

Journal: Journal francais d'ophtalmologie

Published: November 23, 2025

Cartwheel cataract, a specific sign of PAX6 -related aniridia.

Cartwheel cataract, a specific sign of PAX6 -related aniridia.

Journal: Journal of cataract and refractive surgery

Published: October 19, 2025

Sex-based differences in retinal detachment in a genotyped Stickler syndrome cohort: implications for preventive management.

Sex-based differences in retinal detachment in a genotyped Stickler syndrome cohort: implications for preventive management.

Journal: The British journal of ophthalmology

Published: October 07, 2025

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.

Journal: medRxiv : the preprint server for health sciences

Published: September 15, 2025

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.

Journal: Nature genetics

Published: September 02, 2025

Genotype-Phenotype Correlations and Long-Term Surgical Outcomes in TGFBI-Linked Bowman's Layer Corneal Dystrophies.

Genotype-Phenotype Correlations and Long-Term Surgical Outcomes in TGFBI-Linked Bowman's Layer Corneal Dystrophies.

Journal: Cornea

Published: July 23, 2025

De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa.

De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa.

Journal: Nature genetics

Published: June 02, 2025

Genotype-Phenotype Correlations of COL2A1 and COL11A1 Patients.

Genotype-Phenotype Correlations of COL2A1 and COL11A1 Patients.

Journal: American journal of ophthalmology

Published: May 26, 2025

12-month outcomes after voretigene neparvovec gene therapy in paediatric patients with RPE65-mediated inherited retinal dystrophy.

12-month outcomes after voretigene neparvovec gene therapy in paediatric patients with RPE65-mediated inherited retinal dystrophy.

Journal: The British journal of ophthalmology

Published: July 27, 2024

Optic Disc Hypoplasia Assessment in PAX6 -Related Aniridia.

Optic Disc Hypoplasia Assessment in PAX6 -Related Aniridia.

Journal: Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society

Published: January 16, 2024

Reduction of lens size in PAX6-related aniridia.

Reduction of lens size in PAX6-related aniridia.

Journal: Experimental eye research

Published: November 23, 2023

Showing 1-12 of 44

Last Updated: 09/26/2026