Combined recession and resection of the same lateral Rectus in the treatment of exotropia.

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 of the Same Muscle (RRSM) is a promising alternative to the Faden procedure in the surgical treatment of overacting MR in esotropia. We thus examined here the effectiveness of combined RRSM of the LR for the treatment of exotropia that decrease under GA.

Retinitis Punctata Albescens and -Allied Phenotypes: Phenotype-Genotype Correlation and Natural History in the Aim of Gene Therapy.

Purpose: To identify relevant criteria for gene therapy based on clinical and genetic characteristics of rod-cone dystrophy associated with pathogenic variants in a large cohort comprising children and adults.

Design: Retrospective cohort study.

Participants: Patients with pathogenic variants in registered in a single French reference center specialized in inherited retinal dystrophies.

[Visual screening in infancy: recommendation's update in France].

Visual screening in infancy in france. Prevalence of amblyopia is 3 to 5% of the French population. Early recognition and screening allows to treat it effectively.

OTX2 mutations contribute to the otocephaly-dysgnathia complex.

Background: Otocephaly or dysgnathia complex is characterised by mandibular hypoplasia/agenesis, ear anomalies, microstomia, and microglossia; the molecular basis of this developmental defect is largely unknown in humans.

Methods And Results: This study reports a large family in which two cousins with micro/anophthalmia each gave birth to at least one child with otocephaly, suggesting a genetic relationship between anophthalmia and otocephaly. OTX2, a known microphthalmia locus, was screened in this family and a frameshifting mutation was found.

Phenotypic spectrum of STRA6 mutations: from Matthew-Wood syndrome to non-lethal anophthalmia.

Matthew-Wood, Spear, PDAC or MCOPS9 syndrome are alternative names used to refer to 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 in such patients. We performed STRA6 molecular analysis in three fetuses and one child diagnosed with Matthew-Wood syndrome and in three siblings where two adult living brothers are affected with combinations of clinical anophthalmia, tetralogy of Fallot, and mental retardation.