IMPORTANCEA 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 PARTICIPANTSA 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 RELEVANCEIn 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.

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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.

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