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. METHODS: We performed a retrospective, single-center evaluation over a 16-month period of 100 patients operated on for exotropia that decreased under deep GA (91% of 110 consecutive operated cases). We excluded re-operations and pure convergence insufficiencies. We performed a combined RRSM of one or two LR. It included a 10mm-recession and a "fine-tuned" resection of LR based on Quantitative Forced Duction Test scores. MR resection was combined when exotropia exceeded 35PD or for unilateral surgery. We report on patient outcomes 6 months after surgery. RESULTS: Successful results were obtained (-8-+8 PD measured on Alternate Cover Test) among 83% of cases at distance fixation and 91% at near fixation after 6 months. The Newcastle Control Score also improved from 5.8 to 1.7 after 6 months. No surgery-related complications or repeat surgeries were reported. CONCLUSIONS: In our experience a majority of exotropias decrease under GA and our strategy of combined RRSM of the LR is effective for the treatment of such exotropias. Long-term follow-up of the cohort is required to investigate the stability of these outcomes, and confirmation of our results by other works.

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. The study subsequently identified in one unrelated otocephalic patient a sporadic OTX2 mutation. Because OTX2 mutations may not be sufficient to cause otocephaly, the study assayed the potential of otx2 to modify craniofacial phenotypes in the context of known otocephaly gene suppression in vivo. It was found that otx2 can interact genetically with pgap1, prrx1, and msx1 to exacerbate mandibular and midline defects during zebrafish development. However, sequencing of these loci in the OTX2-positive families did not unearth likely pathogenic lesions, suggesting further genetic heterogeneity and complexity. CONCLUSION: Identification of OTX2 involvement in otocephaly/dysgnathia in humans, even if loss of function mutations at this locus does not sufficiently explain the complex anatomical defects of these patients, suggests the requirement for a second genetic hit. Consistent with this notion, trans suppression of otx2 and other developmentally related genes recapitulate aspects of the otocephaly phenotype in zebrafish. This study highlights the combined utility of genetics and functional approaches to dissect both the regulatory pathways that govern craniofacial development and the genetics of this disease group.

Retinitis Punctata Albescens and RLBP1-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 RLBP1 pathogenic variants in a large cohort comprising children and adults. Design: Retrospective cohort study. Participants: Patients with pathogenic variants in RLBP1 registered in a single French reference center specialized in inherited retinal dystrophies. Methods: Clinical, multimodal imaging, and genetic findings were reviewed. Main Outcome Measures: Age of onset; visual acuity; ellipsoid line length; nasal, temporal, and foveal retinal thickness; and pathogenic variants and related phenotypes, including Newfoundland rod-cone and Bothnia dystrophies (NFRCDs), were reappraised. Results: Twenty-one patients (15 families) were included. The most frequent form was NFRCD with 12 patients (8 families) homozygous for the recurrent deletion of exons 7 through 9 in RLBP1 and 5 patients (4 families) with biallelic protein-truncating variants (2 novel: p.Gln16∗ and p.Tyr251∗). A novel combination of the p.Arg234Trp Bothnia variant with a nonsense variant in trans led to Bothnia dystrophy in 2 sisters. One proband carrying the p.Met266Lys Bothnia variant and in trans p.Arg121Trp and a second, with the p.Arg9Cys and p.Tyr111∗ combination, both demonstrated mild retinitis punctata albescens. Independently of genotype, all patients showed a visual acuity of worse than 20/200, an ellipsoid line width of less than 1000 µm, and a mean foveal thickness of less than 130 to 150 µm, with loss of both the interdigitation and ellipsoid lines. Conclusions: The eligibility for RLBP1 gene therapy first should be determined according to the biallelic variant combination using a robust classification as proposed herein. An ellipsoid line width of more than 1200 µm and a central thickness of more than 130 to 150 µm with detectable ellipsoid and interdigitation lines should be 2 prerequisite imaging indicators for gene therapy.

[Visual screening in infancy: recommendation's update in France]. / Dépistage de l'amblyopie en 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. Ophthalmic emergency clinical signs will be sought during pediatric consultations. Risk factors for organic or functional ophthalmological pathologies will be identifies by the pediatrician or the general practitioner. They will guide an ophthalmological consultation in the first month of life or between 12 and 15 months.Children without clinical signs or risk factors should have a systematic orthoptic examination in the third year, including visual acuity measurement, cover-test avec refractive screening by photo- screener.

Dépistage de l'amblyopie en france. L'amblyopie touche 3 à 5 % de la population française. Son dépistage ou celui de ses facteurs de risque doit être précoce afin de la traiter de façon efficace. Lors des examens cliniques pédiatriques, les signes cliniques d'urgence ophtalmologique sont recherchés à tout âge. Les facteurs de risque de pathologies organiques ou fonctionnelles ophtalmologiques peuvent être identifiés par le pédiatre ou le médecin traitant. Ils guident une consultation ophtalmologique dans le premier mois de vie pour les premiers et entre 12 et 15 mois pour les seconds. Les enfants n'ayant ni signe clinique ni facteur de risque doivent bénéficier d'un examen orthoptique systématique lors de la troisième année, incluant la mesure de l'acuité visuelle, un test de l'écran et un dépistage réfractif par photoscreener.

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. Among these patients, six novel mutations were identified, bringing the current total of known STRA6 mutations to seventeen. We extensively reviewed clinical data pertaining to all twenty-one reported patients with STRA6 mutations (the seven of this report and fourteen described elsewhere) and discuss additional features that may be part of the syndrome. The clinical spectrum associated with STRA6 deficiency is even more variable than initially described.