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.

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.

Ophthalmic injuries from the beirut blast: Managing long-term consequences.

The 2020 Beirut Port explosion was one of the largest non-nuclear urban explosions in history, and resulted in a plethora of oculofacial injuries. In this retrospective study, we present the two year follow up ophthalmic outcomes of the survivors of the blast. Only 16 out of 39 patients continued follow up at our center, with 13 having delayed complications and 7 requiring further surgery. The most common delayed complications related to the eyelid, lacrimal system, and orbit. Treatment of disfiguring facial and peri-ocular scarring with laser-assisted drug delivery of topical 5-fluorouracil showed great promise and significantly improved patients' functional and well as cosmetic outcomes.

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.

Ophthalmic Injuries After the Port of Beirut Blast-One of Largest Nonnuclear Explosions in History.

IMPORTANCE: A review of the injury patterns, treatment strategies, and responding physicians' experience during the Port of Beirut blast may help guide future ophthalmic disaster response plans. OBJECTIVE: To present the ophthalmic injuries and difficulties encountered as a result of the Port of Beirut blast on August 4, 2020. DESIGN, SETTING, AND PARTICIPANTS: A retrospective medical record review of all patients who presented to the emergency department and 13 ophthalmology outpatient clinics at the American University of Beirut Medical Center for treatment of ophthalmic injuries sustained from the explosion in Port of Beirut, Beirut, Lebanon, from August 4 to the end of November 2020. Patients were identified from emergency records, outpatient records, and operative reports. MAIN OUTCOMES AND MEASURES: Types of ocular injuries, final best-corrected visual acuity, and need for surgical intervention were evaluated. Visual acuity was measured with correction based on noncycloplegic refraction using the Snellen medical record. EXPOSURES: Ocular or ocular adnexal injuries sustained from the Port of Beirut explosion. RESULTS: A total of 39 blast survivors with ocular injuries were included in this study. Twenty-two patients presented with ocular injuries on the day of the blast, and 17 patients presented within the following 3 months to the ophthalmology clinics for a total of 48 eyes of 39 patients were treated secondary to the blast. Thirty-five patients (89.6%) were adults, and 24 (61.5%) were female. A total of 21 patients (53.8%) required surgical intervention, more than half of which were urgently requested on the same day of presentation (14 [35.9%]). Most eye injuries were caused by debris and shrapnel from shattered glass leading to surface injury (26 [54.2%]), eyelid lacerations (20 [41.6%]), orbital fractures (14 [29.2%]), brow lacerations (10 [20.8%]), hyphema (9 [18.8%]), open globe injuries (10 [20.8%]), and other global injuries. Only 7 injured eyes (14.5%) had a final best-corrected visual acuity of less than 20/200, including all 4 open globe injuries with primary no light perception (8.3%) requiring enucleation or evisceration. CONCLUSIONS AND RELEVANCE: In the aftermath of the Port of Beirut explosion, a review of the ophthalmic injuries showed a predominance of shrapnel-based injuries, many of which had a delayed presentation owing to the strain placed on health care services. Reverting to basic approaches was necessary in the context of a malfunctioning electronic medical record system.

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.

Multifocal electroretinography in amblyopia.

PURPOSE: To identify whether there are functional abnormalities in the retina of amblyopic eyes using multifocal electroretinography (mfERG). METHODS: This is a prospective study of patients ≥ 7 years of age identified with unilateral amblyopia (strabismic or anisometropic). Multifocal ERG and flash ERG were performed to compare parameters between the amblyopic and non-amblyopic fellow eyes. A complete analysis of the five ring averages was done including the central ring. RESULTS: Thirty-eight patients were included: mean age was 14.3 ± 7.3 years; 18 patients were strabismic and 20 were anisometropic. Amblyopic eye responses across the rings in multifocal ERG were diminished compared with fellow non-amblyopic eyes with significant differences detected in the central rings (p = 0.001). On the other hand, flash ERG did not show any consistently significant differences. When divided by severity, amplitudes of central rings were significantly lower in severely amblyopic eyes compared with non-amblyopic eyes (p = 0.001), while in mild amblyopia, no significant differences were observed. No significant difference was observed between anisometropic and strabismic amblyopic eyes. CONCLUSIONS: Using multifocal ERG, significantly decreased amplitudes were observed in amblyopic eyes compared with normal fellow eyes in the central ring. This correlated with the severity of amblyopia. No difference was observed when comparing the two groups of amblyopia (strabismic and anisometropic). Those findings may help clarify the pathophysiology of amblyopia better and open the door for new objective ways to monitor the response to amblyopia treatment but this needs to be further studied.