Ocular surface complications in children undergoing general anaesthesia: A prospective observational study.

OBJECTIVE: Ophthalmic complications frequently occur after procedures requiring general anaesthesia, but their incidence is widely variable and not well reported in the paediatric population. The aim was to identify the incidence and possible risk factors of postoperative ocular surface complications in a tertiary care centre. METHODS AND ANALYSIS: This is a prospective study for paediatric patients undergoing general anaesthesia. An ophthalmologist performed the ocular examination after surgery. Parameters assessed were tear breakup time, punctate epithelial erosions and corneal abrasions. Multivariate logistic regression model was used to assess risk factors. RESULTS: A total of 108 paediatric patients were recruited, 36.1% showed abnormal corneal finding: 32 (29.6%) had decreased tear breakup time, three (2.7%) had punctate epithelial erosions, three (2.7%) had both punctate epithelial erosions and decreased tear breakup time and one (0.9%) was found to have a unilateral corneal abrasion postoperatively. A higher rate of corneal complications was noted with younger age, prolonged surgery and surgery in the head and neck region. CONCLUSION: The rate of postoperative corneal abnormalities in children undergoing general anaesthesia was 36.1%, associated with younger age, prolonged surgery and surgery in the head and neck region.

Long-term surgical outcomes of one-muscle vs. two-muscle horizontal strabismus surgery.

PURPOSE: While horizontal strabismus surgery is generally considered to have favorable outcomes, success rates can vary by type of procedure. Our purpose is to compare the long-term outcomes of patients who underwent one-muscle vs. two-muscle horizontal strabismus surgery. METHODS: This is a retrospective study comparing one-muscle to two-muscle strabismus surgery for small to moderate angle horizontal strabismus. Demographic data and eye exam parameters were compared at baseline and postoperatively (6 months up to 6 years). Surgical success was defined as a post-operative angle of 10 PD or less. We also compared outcomes by strabismus type: esotropia vs exotropia and adjusted the analysis for previous strabismus surgery. RESULTS: Out of 89 patients with moderate angle horizontal strabismus (25 PD or less), 17 patients had a one-muscle operation, and 72 patients had two-muscle surgery. The mean age was 14.12 ± 9.30 years and 11.70 ± 11.30 years for the one-muscle and two-muscle groups, respectively (p = .74). The baseline characteristics of both groups were comparable. Follow-up time was 32.82 ± 26.93 months in one-muscle and 37.67 ± 23.81 in two-muscle groups (p = .29). Success rate was 70.6% for the one-muscle group and 68.10% for the two-muscle group (p = .69). Outcomes were similar when divided into esotropia and exotropia. The success rate was not affected by previous strabismus surgeries nor by the initial angle of deviation. CONCLUSION: One-muscle and two-muscle horizontal strabismus surgery had similar long-term outcomes and did not differ by strabismus type nor by angle of deviation.

Modified partial Jensen procedure to treat a hypertropic Knobby eye syndrome in a high myopic monocular patient.

We present a case of severe esotropia and hypertropia in a monocular high myope with an inferolateral staphyloma. Surgery was undertaken to secure the inferior rectus to the lateral rectus via a modified partial Jensen technique, along with medial rectus recession successfully improving head and eye positions and ductions.

Noncoding variants alter GATA2 expression in rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis.

Hereditary congenital facial paresis type 1 (HCFP1) is an autosomal dominant disorder of absent or limited facial movement that maps to chromosome 3q21-q22 and is hypothesized to result from facial branchial motor neuron (FBMN) maldevelopment. In the present study, we report that HCFP1 results from heterozygous duplications within a neuron-specific GATA2 regulatory region that includes two enhancers and one silencer, and from noncoding single-nucleotide variants (SNVs) within the silencer. Some SNVs impair binding of NR2F1 to the silencer in vitro and in vivo and attenuate in vivo enhancer reporter expression in FBMNs. Gata2 and its effector Gata3 are essential for inner-ear efferent neuron (IEE) but not FBMN development. A humanized HCFP1 mouse model extends Gata2 expression, favors the formation of IEEs over FBMNs and is rescued by conditional loss of Gata3. These findings highlight the importance of temporal gene regulation in development and of noncoding variation in rare mendelian disease.

Whole-exome screening for primary congenital glaucoma in Lebanon.

PURPOSE: Mutations were previously identified in the CYP1B1 gene in six out of 18 Lebanese families (33%) with primary congenital glaucoma (PCG). The purpose of this study is to determine the frequency and type of pathogenic mutations in other genes and compare to other populations using whole-exome sequencing and perform genotype-phenotype correlations. METHODS: Twelve PCG patients previously negative for CYP1B1/MYOC mutations were subjected to whole-exome sequencing. Targeted screening for glaucoma-associated genes was performed. Candidate variants were verified by Sanger sequencing and evaluated in family members for segregation analysis and in 100 normal controls. Clinical correlations were established as to severity of disease presentation, course, and visual outcomes. RESULTS: Six mutations in known PCG-causing genes were identified in five patients: homozygous mutations in CYP1B1 (p.R368G), LTBP2 (p.E1013G), and TEK (p.T693I), and heterozygous mutations in FOXC1 (p.Q92*), TEK (c.3201-1 G>A), ANGPT1 (p.K186N), and CYP1B1 (p.R368G). Two patients, negative for CYP1B1 in the previous study, were revealed positive in the current study, due to different sets of primers and PCR conditions. Potentially damaging variants were noted in several candidate genes. Except for FOXC1 mutations, all genetic variants described here are novel. Intra-ocular pressure and final optic nerve cup-to-disc ratio were highest in the patient with three mutations in LTBP2/TEK/ANGPT1 genes. CONCLUSION: This study provides new data on the spectrum of mutations of PCG in Lebanon. This highlights the genetic heterogeneity of the Lebanese population, noted for high rates of consanguinity in 50% in this cohort. This study emphasizes the importance of whole-exome sequencing in elucidating new candidate genes for PCG in the Lebanese.

Effect of the COVID-19 Lockdown on Myopia Progression of School-aged Children: A Retrospective Chart Review.

PURPOSE: To study the effect of the coronavirus disease 2019 (COVID-19)-related lockdown on myopia progression of school-aged children, comparing across the years and within different age groups. METHODS: This was a retrospective chart review of school-aged children with myopia who presented to the pediatric ophthalmology clinic at the American University of Beirut between January 2020 and December 2021 (during COVID-19 lockdown). Annual myopia progression rate (back to January 2016) was computed by dividing the absolute value of the spherical equivalent (SE) difference of two consecutive visits by the duration (in years). Demographic data were retrieved. Patients were then divided into three age groups (3 to 10, 11 to 14, and 15 to 18 years) for analysis. RESULTS: A total of 443 charts of myopic school-aged children were reviewed. Their average age was 11.81 ± 3.67 years with an average of 3.85 ± 1.67 visits across the years. The mean myopic SE increased over time: SE in 2021 was significantly higher than the mean SE in 2016, 2017, 2018, and 2019. Mean SE in 2020 was significantly higher than that in 2016 and 2017. There was no statistically significant difference in the mean annual progression (in diopters/year). For the 3 to 10 years group, the annual SE progression tended to be highest for 2020-2021 and 2019-2020 compared to previous years. CONCLUSIONS: Children had more myopia in 2021 and 2020 (during lockdown) compared to previous years. The myopia annual progression tended to be highest in 2020-2021, especially for the younger age group, but the difference was not statistically significant. [J Pediatr Ophthalmol Strabismus. 2023;60(5):353-358.].

The Ophthalmology Workload during the Lebanese Crisis and Pandemic.

PURPOSE: The purpose is to to explore the effects of the Lebanese economic crisis on the ophthalmology workload in Lebanon, and the concomitant influence of the COVID-19-related lockdown and Beirut port explosion. METHODS: Data pertaining to all the clinic visits to the Ophthalmology Department at the American University of Beirut Medical Center between January 01, 2019, and December 31, 2021, were extracted. Completed visits to different subspecialties were used to analyze the different parameters. All parameters were compared across the 3 years. RESULTS: We included 102,810 completed visits in this study. A total decrease of 15.3% occurred in visits between 2019 and 2020. The mean number of patients per month decreased significantly between 2019 and 2020 in retina/uveitis and glaucoma/anterior segment clinics. The same trend was observed in pediatric/neuro-ophthalmology and cornea/refractive surgery, although it did not reach statistical significance. For oculoplastics, the workload actually tended to increase from 2019 to 2021. During the pandemic-related lockdown (March, April, and May 2020), the workload decreased by 37.8% in oculoplastics, 63.4% in pediatric/neuro-ophthalmology, 52.8% in retina/uveitis, 60.2% in cornea/refractive surgery, and 50.7% in glaucoma/anterior segment. After the Beirut port explosion in August 2020, an overall decrease of 30.2% was found in the number of patient visits in all sub-specialties, while the number of patients in oculoplastics remained nearly unchanged. CONCLUSION: The ophthalmology workload was strongly affected by the economic crisis in all subspecialties especially with the pandemic in 2020, except for oculoplastics. During the pandemic, the most affected subspecialty was the pediatric/neuroophthalmology, while oculoplastics was the least affected.

Success of Endoscopic Laser Cyclophotocoagulation vs Repeat Transscleral Treatment after Prior Transscleral Cycloablation.

Aim: To compare the efficacy of endoscopic cyclophotocoagulation (ECP) vs repeat transscleral cyclophotocoagulation (TCP) in eyes with persistent glaucoma despite prior treatment with TCP. Materials and methods: This was a retrospective chart review of glaucoma patients at the American University of Beirut Medical Center over 10 years who underwent ECP or repeat TCP. We reported qualified and complete success; success was defined as postoperative intraocular pressure (IOP) ≤21 mm Hg, with (qualified) or without medications (complete) and without procedure-related complications. Results: This study included 23 eyes of 21 patients with various forms of uncontrolled glaucoma who had failed TCP. A total of 13 eyes of 12 patients underwent ECP with a mean age of 39.9 ± 23.2 years, and 10 eyes of nine patients underwent repeat TCP with a mean age of 27.2 ± 22.6 years. A significant decrease in IOP was observed from 38.5 ± 7.9 mm Hg preoperatively to 25.2 ± 8.8 mm Hg postrepeat TCP (p = 0.006) and from 33.0 ± 9.5 to 12.8 ± 3.9 mm Hg post-ECP (p < 0.001), noted at a mean follow-up time of 39.2 ± 44.4 and 41.5 ± 37.4 months, respectively. The mean number of antiglaucoma medications decreased in the two groups (from 3.8 ± 1.0 preoperatively to 1.8 ± 0.9 postoperatively for ECP and from 3.5 ± 1.3 to 3.1 ± 0.9 postoperatively for TCP); however, the drop was only statistically significant post-ECP. Qualified success was significantly higher after ECP vs repeat TCP (91.7 vs 40%, respectively). Complete success was achieved only in 1/12 (8.3%) eyes in the ECP group. Conclusion: Endoscopic cyclophotocoagulation (ECP) performed in glaucomatous eyes previously treated with transscleral cycloablation provided more IOP control as compared to repeat TCP by directly treating viable tissue in previously skipped ciliary processes and in between processes. Clinical significance: In glaucomatous eyes previously treated with transscleral cycloablation, ECP attained better IOP control than repeat transscleral cycloablation. How to cite this article: Al-Haddad C, Barikian A, Moussawi ZE, et al. Success of Endoscopic Laser Cyclophotocoagulation vs Repeat Transscleral Treatment after Prior Transscleral Cycloablation. J Curr Glaucoma Pract 2023;17(4):191-196.

A Comparison of the Long-Term Surgical Outcomes of Horizontal Strabismus Surgery between Resident Clinic and Private Clinic Patients.

PURPOSE: To compare the long-term surgical outcomes of patients with horizontal strabismus whose surgery was performed in an outpatient department (OPD) setting (by residents-in-training) to those whose surgery was performed in a private clinic (PC) setting (by staff-ophthalmologists) in the same operating room/institution. METHODS: Two hundred and forty-four patients' charts who had horizontal strabismus surgeries from January 2007 to 2020 were reviewed retrospectively. A total of 92 patients were operated on by residents and followed in OPD, and 152 patients by staff-surgeons and followed in PC. Demographic data and eye exam parameters were collected. Distance and near deviation (in prism diopters, PD) were extracted and compared between groups at baseline and postoperatively (6 months and yearly for up to 6 years). Success was defined as a postoperative motor alignment of 10PD or less. RESULTS: The mean age of the 244 patients was 10.5 ± 11.7 years, with no significant differences between groups. A longer follow-up duration was reported in the PC group (34.9 ± 24.3 months vs 25.3 ± 20.2 months). Patients had similar success rates in both groups in the early postoperative period (6 months and 1 year); however, a higher success rate was observed in the PC group compared to OPD at 3, 5 and 6 years with the following respective values: 72.2% vs 50% (p < .001), 75% vs. 66.7% (p = .02), and 68.6% vs. 66.7% (p = .03). The difference was more pronounced in the esotropia subgroup mostly at 3 years follow-up. CONCLUSION: This study showed a similar success rate of horizontal strabismus surgery performed in a PC setting by staff surgeons as compared to that performed in an OPD setting by residents at 6 months and 1 year. A significantly higher success rate was observed at long term follow-up (after 2 years) in the PC group compared to the OPD group, possibly related to the difference in compliance with post-operative follow-up management and not to surgery itself.

Characteristics and long-term surgical outcomes of horizontal strabismus.

PURPOSE: Our aim was to report the characteristics and long-term surgical outcomes of three subgroups of horizontal strabismus in a single institution (divided by strabismus subtype) in a developing country and look into pre-operative factors predictive of surgical success. METHODS: Two hundred and forty-four complete charts of patients, divided into 152 esotropes (ET) and 92 exotropes (XT) who had undergone horizontal strabismus surgeries, were retrospectively reviewed. Charts of patients with muscle palsy, Duane syndrome and consecutive strabismus were excluded; 172 patients were included divided into partially accommodative ET, congenital ET and intermittent XT. Surgical success was defined as a post-operative angle deviation of 12 prism diopters or less. RESULTS: The mean follow-up period of all patients was 31.64 ± 23.12 months. The subgroups were divided into partially accommodative ET (60 patients), congenital ET (60 patients), and intermittent XT (52 patients). Esotropes (both partially accommodative and congenital) presented earlier (p < 0.001). Also, partially accommodative ET had a significantly higher spherical equivalent (SE) compared to congenital ET patients, who had a higher SE than intermittent XT (p < 0.001). Congenital ET patients had a significantly larger angle of deviation (for both far and near) than both partially accommodative ET and intermittent XT patients (p < 0.001). The overall success rate was 72.67% for the whole group with no significant differences among subgroups. Success rate of partially accommodative ET surgery was 78.33% compared to that of congenital ET at 66.67% and intermittent XT at 73.07%. Significant post-operative improvement in sensory fusion was observed mainly for patients with partially accommodative esotropia and intermittent exotropia. CONCLUSION: Our results showed that esotropes (both partially accommodative and congenital) presented earlier, with a higher spherical equivalent in the partially accommodative ET subgroup, while the congenital ET subgroup had the largest angle of deviation for both distance and near. The overall surgical success rate for horizontal strabismus surgery was 72.67% with the 3 subgroups having similar success rates. A younger age at presentation and absence of amblyopia were positively correlated with surgical success in the partially accommodative esotropia group.

A Review of Driving and Binocularity.

Although most jurisdictions allow stereoscopically deficient and monocular individuals to drive, studies regarding these visual components' effects on driving have to date yielded contradicting results. Interviews, record reviews, and experiments have been used to unmask these effects. In interviews, participants with amblyopia reported several difficulties operating automobiles. Record reviews yielded mixed results, with studies revealing an increased crash rate and/or severity in a group of stereoscopically deficient commercial drivers, whereas studies of non-commercial drivers failed to make that association. Furthermore, experimental studies showed that individuals with reduced stereopsis braked earlier and were less likely to crash. With regard to monocularity, real-life experiments failed to demonstrate a poorer driving performance and simulation studies showed that drivers with sudden monocularity were more likely to crash and drive off the road. [J Pediatr Ophthalmol Strabismus. 2022;59(1):6-12.].

Scleral Perforation as a Complication of Strabismus Surgery: A Literature Review.

The aim of this review was to report the existing literature on the incidence, risk factors, treatment, and outcomes of scleral perforation as a vision-threatening complication of strabismus surgery. The current literature reported an incidence range of scleral perforation/penetration between 3 in 1,000 and 7.8%. Rectus muscle recession was the most commonly mentioned risk factor among the studies. Other risk factors were myopia, previous extraocular muscle surgery, surgeon experience, S-24 needle use, muscle reattachment posterior to the original insertion site, operating on a horizontal rectus muscle, and young age. Different views existed in the literature regarding scleral perforation management. Some ophthalmologists advocated management by cryopexy or indirect ophthalmoscopic laser uniformly, whereas others reserved it for more complicated cases. Antibiotic therapy for endophthalmitis prophylaxis was recommended by one study and shown to be practiced by some ophthalmologists. [J Pediatr Ophthalmol Strabismus. 2022;59(4):214-223.].

Teaching the Scleral Pass in Strabismus Surgery.

The authors describe a method to improve teaching the most critical step in strabismus surgery, the scleral pass. The attending surgeon fashions a "scleral tunnel" by performing the scleral pass and retracting the needle so the resident can pass it through the same tunnel. This ultimately helps decrease complications during surgical training. [J Pediatr Ophthalmol Strabismus. 2021;58(5):e34-e35.].

Pediatric Glaucoma in a University Hospital.

AIMS AND OBJECTIVES: This study aimed at describing the characteristics and outcomes of pediatric glaucoma patients in a university hospital in Lebanon and comparing them between primary congenital glaucoma (PCG) and secondary glaucoma. MATERIALS AND METHODS: Sixty-four eyes of 40 pediatric glaucoma patients with a follow-up of 1 year or more were reviewed. Parameters were studied for both PCG and secondary glaucoma groups. Three major outcomes were considered: intraocular pressure (IOP) control, final best-corrected visual acuity (BCVA), and the proportion of failed angle surgeries. RESULTS: Sixty-four eyes were included divided into 29 PCG and 35 secondary glaucoma eyes, followed up for a mean of 6.6 ± 4.7 years. Eyes with PCG presented earlier, with a higher initial IOP and underwent earlier surgery than their secondary glaucoma counterparts. Although 85.9% of all eyes achieved good IOP control, 44.4% of them had a BCVA ≥20/50 with PCG having a better visual prognosis. Secondary glaucoma eyes needed more medications at the end of their follow-up. In this group, it was shown that a later age at first surgery, unilateral disease, and multiple surgeries were associated with a BCVA < 20/50. CONCLUSION: Patients with PCG presented earlier and with a higher IOP than secondary glaucoma; they were also operated on earlier. Both groups demonstrated good IOP control at the end of the follow-up period with PCG eyes having a superior visual outcome. Secondary glaucoma eyes required a higher number of medications at their final visit. In this population, multiple surgeries, unilateral disease, and a delayed first surgery conferred a poorer visual prognosis. CLINICAL SIGNIFICANCE: Data regarding the characteristics of pediatric glaucoma, especially in the Middle East, are scarce. Our study sheds the light on the presentation of different types of pediatric glaucoma and their outcomes namely IOP control and visual acuity. HOW TO CITE THIS ARTICLE: Dakroub M, Khair D, Noureddine B, et al. Pediatric Glaucoma in a University Hospital. J Curr Glaucoma Pract 2021;15(1):8-13.

Amblyopia risk factors among pediatric patients in a hospital-based setting using photoscreening.

PURPOSE: The aim of our study was to determine the prevalence of amblyopia risk factors in children visiting the American University of Beirut Medical Center (AUBMC) using automated vision screening. METHODS: This was a hospital-based screening of 1102 children aged between 2 and 6 years. Vision screening was performed using PlusoptiX S12 over 2 years (2018-2020). The need for referral to a pediatric ophthalmologist was based on the amblyopia risk factors set forth by the American Association for Pediatric Ophthalmology and Strabismus. Referred patients underwent a comprehensive eye examination. RESULTS: A total of 1102 children were screened, 63 were referred for amblyopia risk factors (5.7%); 37/63 (59%) underwent comprehensive eye examination and 73% were prescribed glasses. Of the non-referred group of children, 6.35% had astigmatism, 6.25% were hyperopic and 3.27% were myopic. The refractive errors observed among the examined patients were distributed as follows: 41% astigmatism, 51% hyperopia, and 8% myopia; amblyopia was not detected. Refractive amblyopia risk factors were associated with the presence of systemic disorders. Bland-Altman plots showed most of the differences to be within limits of agreement. CONCLUSION: Using an automated vision screener in a hospital-based cohort of children aged 2 to 6 years, the rate of refractive amblyopia risk factors was 5.7%. Hyperopia was the most commonly encountered refractive error and children with systemic disorders were at higher risk.

A comparison of the workload between pediatric and adult ophthalmology encounters.

PURPOSE: To explore the differences in workload between pediatric and adult ophthalmology encounters in the private clinics of an academic medical center. METHODS: Complete encounters from four different subspecialties were analysed: pediatric ophthalmology, pediatric ophthalmology/neuroophthalmology, anterior segment, and retina. Five parameters were studied: time waiting for assistant, time with assistant, time waiting for physician, time with physician, and total visit time. Imaging or procedures performed during the clinic visit were recorded. A regression analysis by age was also performed. RESULTS: Of 8,545 clinic visits reviewed, 5,611 were complete and included. Pediatric patients spent more time than adults with assistants (10.6 ± 11.5 vs 7.3 ± 6.8 min; P < 0.001) and more time with physicians (25.9 ± 21.6 vs 17.0 ± 13.8 min; P < 0.001) but less time waiting for the physician. Total visit time and time waiting for an assistant did not differ significantly between groups. Adults who underwent a procedure or imaging during their visit had significantly longer times in most components of the encounter. Age was positively correlated with time waiting for physician, time with physician, and total visit time in the adult group. In the pediatric group, age was positively correlated with time with assistant and negatively correlated with time with physician. CONCLUSIONS: Our study showed that pediatric patients waited a shorter duration for their physicians than adults; however, they required more time with both the physician and the assistant. Total visit time was similar between groups.

Gene therapy in color vision deficiency: a review.

BACKGROUND: Color vision deficiencies are a group of vision disorders, characterized by abnormal color discrimination. They include red-green color blindness, yellow-blue color blindness and achromatopsia, among others. The deficiencies are caused by mutations in the genes coding for various components of retinal cones. Gene therapy is rising as a promising therapeutic modality. The purpose of this review article is to explore the available literature on gene therapy in the different forms of color vision deficiencies. METHODS: A thorough literature review was performed on PubMed using the keywords: color vision deficiencies, gene therapy, achromatopsia and the various genes responsible for this condition (OPN1LW, OPN1MW, ATF6, CNGA3, CNGB3, GNAT2, PDE6H, and PDE6C). RESULTS: Various adenovirus vectors have been deployed to test the efficacy of gene therapy for achromatopsia in animals and humans. Gene therapy trials in humans and animals targeting mutations in CNGA3 have been performed, demonstrating an improvement in electroretinogram (ERG)-investigated cone cell functionality. Similar outcomes have been reported for experimental studies on other genes (CNGB3, GNAT2, M- and L-opsin). It has also been reported that delivering the genes via intravitreal rather than subretinal injections could be safer. There are currently 3 ongoing human clinical trials for the treatment of achromatopsia due to mutations in CNGB3 and CNGA3. CONCLUSION: Experimental studies and clinical trials generally showed improvement in ERG-investigated cone cell functionality and visually elicited behavior. Gene therapy is a promising novel therapeutic modality in color vision deficiencies.

KIF21A pathogenic variants cause congenital fibrosis of extraocular muscles type 3.

Background: Congenital fibrosis of the extraocular muscles (CFEOM) is characterized by ptosis and non-progressive restrictive ophthalmoplegia. CFEOM1 is a stereotypical phenotype with isolated bilateral ptosis, bilateral ophthalmoplegia, absent upgaze, and globe infraduction. CFEOM3 is a more variable phenotype that can include unilateral disease, absent ptosis, residual upgaze, and/or orthotropia. Most cases of CFEOM1 result from recurrent heterozygous KIF21A missense mutations and less commonly from recurrent heterozygous TUBB3 missense mutations. While most cases of CFEOM3 result from recurrent heterozygous TUBB3 missense mutations, several pedigrees harbored pathogenic variants in KIF21A. Here, we asked if Lebanese pedigrees with CFEOM3 harbor pathogenic variants in TUBB3 or KIF21A.Materials and Methods: Families affected with congenital cranial dysinnervation disorders were prospectively recruited from the American University of Beirut pediatric ophthalmology clinic and included two probands with CFEOM. KIF21A hotspot exons and TUBB3 coding sequence were sequenced. Available family members were sequenced for co-segregation analysis.Results: Both families were found to have CFEOM3 and to harbor pathogenic variants in KIF21A(OMIM 608283). A simplex proband with CFEOM3 from a consanguineous Iraqi family harbored a de novo heterozygous KIF21A c.2860 C > T variant (p.R954W); this variant accounts for the majority of reported KIF21A mutations but is typically implicated in CFEOM1. A Lebanese father with CFEOM3 and his son with CFEOM1 segregated a heterozygous KIF21A c.2830 G > C variant (p.E944Q), previously reported in an individual with CFEOM1.Conclusions: These results support prior reports of KIF21A mutations as a rare cause of CFEOM3. These families are Middle Eastern or Chinese, supporting a genetic modifier in these populations.

Recurrence of Intermittent Exotropia after Bilateral Lateral Rectus Recession.

PURPOSE: The purpose of this study was to evaluate predictive factors for intermittent exotropia (XT) recurrence after bilateral lateral rectus (BLR) recession. METHODS: This is a retrospective chart review of patients with XT who underwent BLR recession surgery between January 2007 and March 2017 with at least one postsurgical follow-up. Forty-one medical records were reviewed. Information collected included age, gender, systemic diseases, history of prematurity, family history of eye diseases, visual acuity, refraction, ocular alignment and control, stereoacuity, slit-lamp examination, fundoscopy, and amount of BLR recession. Successful alignment was defined as ≤8 prism diopters of esotropia or exotropia postoperatively. RESULTS: The mean age of patients at the time of surgery and follow-up time was 9.2 ± 12.3 years (y) and 23.6 ± 36.5 months (m), respectively. The mean amount of BLR recession was 6.5 ± 1.0 mm. Recurrence rate was 43.9% on the last follow-up. Age at surgery and at the time of last follow-up were significantly higher in the recurring group (P = 0.04 and P = 0.05, respectively). Postoperative angle of misalignment during the first 3 months was correlated with exotropia recurrence. No statistical significance was found among the remaining factors studied. CONCLUSIONS: The recurrence rate of XT in our study was 43.9%; it was increased in patients operated at older age and amid those with significant exotropia detected in the early postoperative period (within 3 months of surgery).