A5073556257- Intraocular Surgery and Lenses
- Ocular Disorders and Treatments
- Ophthalmology and Visual Impairment Studies
- Retinal Diseases and Treatments
- Ocular Diseases and Behçet’s Syndrome
- Visual perception and processing mechanisms
- Retinal Development and Disorders
- Retinal and Macular Surgery
- Cerebral Venous Sinus Thrombosis
- Congenital Ear and Nasal Anomalies
- Glaucoma and retinal disorders
- Ocular Infections and Treatments
- Retinal and Optic Conditions
- Ophthalmology and Eye Disorders
- Historical and Scientific Studies
- Health, Medicine and Society
- Sinusitis and nasal conditions
- Advanced biosensing and bioanalysis techniques
- Vascular Malformations Diagnosis and Treatment
- Syphilis Diagnosis and Treatment
- Craniofacial Disorders and Treatments
- Reconstructive Facial Surgery Techniques
- interferon and immune responses
- Pituitary Gland Disorders and Treatments
- Ocular Surface and Contact Lens
Clinique Pasteur
2019-2024
Hôpital Purpan
2008-2012
Centre Hospitalier Universitaire de Toulouse
2011
Hôpital Paule de Viguier
2011
Hôpital Rangueil
2010
Centre de Physiopathologie de Toulouse-Purpan
2008
Inserm
2008
Matthew-Wood, Spear, PDAC or MCOPS9 syndrome are alternative names used to refer combinations of microphthalmia/anophthalmia, malformative cardiac defects, pulmonary dysgenesis, and diaphragmatic hernia. Recently, mutations in STRA6, encoding a membrane receptor for vitamin A-bearing plasma retinol binding protein, have been identified such patients. We performed STRA6 molecular analysis three fetuses one child diagnosed with Matthew-Wood siblings where two adult living brothers affected...
<h3>Background</h3> Otocephaly or dysgnathia complex is characterised by mandibular hypoplasia/agenesis, ear anomalies, microstomia, and microglossia; the molecular basis of this developmental defect largely unknown in humans. <h3>Methods results</h3> This study reports a large family which two cousins with micro/anophthalmia each gave birth to at least one child otocephaly, suggesting genetic relationship between anophthalmia otocephaly. <i>OTX2</i>, known microphthalmia locus, was screened...
Microphthalmia and anophthalmia are at the severe end of spectrum abnormalities in ocular development. Mutations several genes have been involved syndromic non-syndromic anophthalmia. Previously, RAX recessive mutations were implicated a single patient with right anophthalmia, left microphthalmia sclerocornea. In this study, we report findings novel compound heterozygous child bilateral Both located exon 3. c.664delT is frameshifting deletion predicted to introduce premature stop codon...
To identify relevant criteria for gene therapy based on clinical and genetic characteristics of rod-cone dystrophy associated with RLBP1 pathogenic variants in a large cohort comprising children adults. Retrospective study. Patients registered single French reference center specialized inherited retinal dystrophies. Clinical, multimodal imaging, findings were reviewed. Age onset; visual acuity; ellipsoid line length; nasal, temporal, foveal thickness; related phenotypes, including...
Background Besides rest position abnormalities, exotropia could also be due to hypertonia of the Lateral Recti (LR) given divergence frequently decreases under general anesthesia (GA). Combined Recession-Resection Same Muscle (RRSM) is a promising alternative Faden procedure in surgical treatment overacting MR esotropia. We thus examined here effectiveness combined RRSM LR for that decrease GA. Methods performed retrospective, single-center evaluation over 16-month period 100 patients...
: The ORTHOPHTALMO study aims to evaluate the diagnostic parameters of screening protocol for amblyopia and risk factors in 3-year-olds recommended 2019 by French Association Pediatric Ophthalmology Strabismus (AFSOP). This uses visual acuity, photoscreening refraction, cover test examination performed an orthoptist. Patient referral ophthalmologist is only according criteria.