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.

Prospective cholestanol screening of cerebrotendinous xanthomatosis among patients with juvenile-onset unexplained bilateral cataracts.

BACKGROUND: Cerebrotendinous xanthomatosis (CTX) is a rare genetic disorder related to CYP27A1 biallelic mutations, leading to decreased synthesis of bile acids and increased cholestanol. Juvenile bilateral cataracts are one of the most common findings in the disease, frequently occurring before the onset of neurological manifestations. While early treatment with chenodeoxycholic acid can prevent the onset of neurological impairment, poor awareness of CTX accounts for a markedly delayed diagnosis. The objective of this study was to evaluate the utility of plasma cholestanol analysis at the moment of cataract diagnosis and before the onset of neurological impairment in CTX. METHODS: Multicenter prospective cohort study of patients with juvenile-onset unexplained bilateral cataracts recruited from seven French ophthalmology departments. Plasma cholestanol analysis was performed at diagnosis from January 2018 to January 2020. CYP27A1 genetic testing was performed at the ophthalmologist's discretion. Cholestanol levels were compared with those of a similar population of patients without cataracts (control cohort). RESULTS: 30 patients were finally recruited, with a mean age at cataract diagnosis of 7.1 years (± 4.8 SD, range 1-19 years). One patient had a very high cholestanol level (68 µmol/L, reference < 10) and carried two pathogenic heterozygous mutations in CYP27A1 confirming CTX. This patient was a 19-year-old female, reporting chronic diarrhea only in childhood, and diagnosed with bilateral posterior cataracts with cortical fleck-like opacities. Therefore, the incidence of CTX in our cohort of patients was 3.3%. Five further patients (5/29; 17.2%) had moderate elevations of cholestanol level (between 10.3 and 16.5 µmol/L), compared to 12/286 (4.2%) in the control cohort (p = 0.014) after adjustment for age. CONCLUSION: Our study argue for the relevance of plasma cholestanol CTX screening in all patients with juvenile-onset unexplained cataracts, even without other CTX identified manifestations. Whether moderate elevations of plasma cholestanol unrelated to CTX may be a risk factor for bilateral cataracts occurrence needs further examination.

First evidence of SOX2 mutations in Peters' anomaly: Lessons from molecular screening of 95 patients.

Peters' anomaly (PA) is a rare anterior segment dysgenesis characterized by central corneal opacity and irido-lenticulo-corneal adhesions. Several genes are involved in syndromic or isolated PA (B3GLCT, PAX6, PITX3, FOXE3, CYP1B1). Some copy number variations (CNVs) have also been occasionally reported. Despite this genetic heterogeneity, most of patients remain without genetic diagnosis. We retrieved a cohort of 95 individuals with PA and performed genotyping using a combination of comparative genomic hybridization, whole genome, exome and targeted sequencing of 119 genes associated with ocular development anomalies. Causative genetic defects involving 12 genes and CNVs were identified for 1/3 of patients. Unsurprisingly, B3GLCT and PAX6 were the most frequently implicated genes, respectively in syndromic and isolated PA. Unexpectedly, the third gene involved in our cohort was SOX2, the major gene of micro-anophthalmia. Four unrelated patients with PA (isolated or with microphthalmia) were carrying pathogenic variants in this gene that was never associated with PA before. Here we described the largest cohort of PA patients ever reported. The genetic bases of PA are still to be explored as genetic diagnosis was unavailable for 2/3 of patients. Nevertheless, we showed here for the first time the involvement of SOX2 in PA, offering new evidence for its role in corneal transparency and anterior segment development.

Bilateral combined resection-recession of the same rectus muscle versus Fadenoperation for treatment of purely tonic esotropias.

PURPOSE: To compare the efficiency of bilateral combined resection-recession surgery of the medial rectus muscle versus using a modified Fadenoperation for surgical management of esotropias that totally resolve under general anesthesia, which we called "purely tonic" esotropias. METHODS: We included 65 unselected consecutive cases of patients with purely tonic esotropias who underwent surgery between October 2017 and 2018. Patients were divided into group I, who underwent a combined resection and recession of medial recti muscles, and group II, who underwent a bilateral medial rectus Fadenoperation using posterior strapping. A satisfactory outcome was defined as deviation ⩽10 prism diopters (PD), at near and distance fixation, between 3 and 6 months postoperatively. RESULTS: Mean initial deviation was in group I, 19.6 PD and 32.0 PD, in group II, 23.6 PD and 33.5 PD, at distance and near fixation respectively. Postoperatively, in group I, 31 patients (91.2%) showed satisfactory alignment at near and distance fixation. Post-operatively, in group II, 25 patients (80.6%) showed satisfactory alignment at near and distance fixation. CONCLUSION: Our results suggest both techniques are good options to treat purely tonic esotropias.

[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.

[The law of March 4th, 2002 - the Patient's Rights Statute]. / La loi du 4 mars 2002 relative aux droits des malades, changement de modèle, changement de règles.

With regards to the health professionals-patients relationships, this Statute marked a transition from a system to another : from the "knowing" professional one to the patient-actor one. The rights granted to patients are designed to given them the means to become such a player.

Intraoperative assessment of medial rectus pulley location in strabismus.

Purpose. Extraocular muscle (EOM) pulleys are important in eye movement physiology and may play a role in the outcome of strabismus surgery. Few studies have evaluated "normal" position of EOM pulleys. We sought to assess intraoperatively medial rectus (MR) pulley location and variations in a prospective observational case series. Methods. A total of 194 consecutive patients with all types of strabismus aged 2 to 64 years had primary surgery on MR. We conducted 357 measures of the distance between scleral insertion of MR and anterior part of the pulley. We compared results to preoperative angle of deviation, age, refraction, and position of eyes under anesthesia. Results. Median location of the anterior part of the MR's pulley is 12.03 mm from scleral insertion, varying from 8 to 15 mm. There is a strong relation with refraction (p=0.005) and with preoperative angle of deviation (p=0.00002) and deviation under anesthesia (p=0.0001). The MR's pulley tends to be more anterior in hyperopic cases and esotropias, and posterior in myopias and exotropias. Conclusions. Our study shows physiologic variations of MR's pulley position with evidence of an adaptation to biometric parameters of the globe, represented by refraction state of the eyes in our study. Elsewhere, strabismus leads to an independent variation of MR's pulley location evaluated relatively to muscle's scleral insertion, but probably not if evaluated relatively to the orbit. We discuss consequences on ocular motility and surgery of these variations. They may explain some unexpected effects of strabismus surgery. Further studies are needed to ascertain their real impact.

Esotropias that totally resolve under general anesthesia treated exclusively with bilateral fadenoperation.

PURPOSE: Fadenoperation has been proven to be an efficient method to treat convergence excess because it treats medial rectus (MR) overaction. We wanted to evaluate its efficiency in esotropias that totally disappear under anesthesia, regardless of the amount of deviation in waking hours. METHODS: Included were 122 successive cases of children of ages 3 to 16 years with esotropia that completely disappears under general anesthesia (GA), representing 26.25% of all patients with esotropia that had surgery between August 2002 and July 2004. They all received a fadenoperation (retroequatorial strapping) of both MR without recession with a 5/0 nylon suture. RESULTS: Patients were evaluated between 27 and 51 months postoperatively. Mean initial deviation was 21 prism dioptres (PD) at distance and 31 PD at near fixation. Of the 122 cases, 102 (83.6%) showed stable postoperative deviation between +8 and -8 PD, 7 showed exotropias (< 20 PD), and 13 showed esotropias (< 20 PD). These results were found without correlation to preoperative angle of deviation, ametropia, age at surgery, or association with vertical surgery. CONCLUSION: Our results suggest that fadenoperation of MR is an option to treat esotropias that disappear under anesthesia. The retroequatorial strapping we use seems safer than classical fadenoperation. We believe that the position of the eyes under GA should be considered for the surgical approach of esotropias.