ABSTRACT
OBJECTIVE: Orbital compartment syndrome (OCS) is a time critical condition, with ischaemic complications occurring after 90-120 min. In the prehospital setting, the diagnosis and management of OCS is challenging due to complex environmental considerations, competing clinical priorities, and limited equipment. This study aims to provide learning points on performing lateral canthotomy and cantholysis (LCC) in the prehospital setting. METHODS: We performed a retrospective audit of LCC in our service from January 2016 to December 2020 by retrieving demographic and clinical details from LifeFlight Retrieval Medicine electronic database using 'OCS' and 'LCC' as keywords. RESULTS: Three cases out of 7413 trauma missions were identified over the 5-year period. LCC was performed at the primary scene in two cases, while one patient underwent LCC at a rural hospital near the scene of injury. Clinical findings, aeromedical considerations, and radiological findings at the receiving facility, along with visual outcomes at time of discharge are discussed. CONCLUSION: Prehospital LCC is rare. The Australian aeromedical context often involves lengthy transfers of trauma patients. Clinical diagnosis and management of OCS are highly challenging in the prehospital setting. It is important that prehospital physicians have access to appropriate equipment to perform LCC. They should be provided with suitable training and supported by a standard operating procedure.
Subject(s)
Compartment Syndromes , Emergency Medical Services , Australia , Compartment Syndromes/etiology , Compartment Syndromes/surgery , Decompression, Surgical/adverse effects , Humans , Retrospective StudiesABSTRACT
Purpose: This work aims to discuss the case of a 32-year-old man with diabetic macular edema (DME) who underwent successful treatment of a full-thickness macular hole (FTMH) with a single dose of aflibercept. Methods: A case report is presented. Results: A 32-year-old man with reduced vision and DME in the right eye was found to have a FTMH. The patient was scheduled for pars plana vitrectomy; however, following a single dose of intravitreal aflibercept, the FTMH closed and the patient avoided surgical intervention. Conclusions: FTMH formation in DME is a rare complication that typically requires surgical intervention. We present a case of FTMH closure after a single dose of intravitreal aflibercept, which to our knowledge is the first of its kind. This report highlights the importance of considering conservative treatment initially to avoid surgery.
ABSTRACT
Stargardt disease is a progressive retinal disorder caused by bi-allelic mutations in the ABCA4 gene that encodes the ATP-binding cassette, subfamily A, member 4 transporter protein. Over the past few years, we and others have identified several pathogenic variants that reside within the introns of ABCA4, including a recurrent variant in intron 36 (c.5196+1137G>A) of which the pathogenicity so far remained controversial. Detailed clinical characterization of this variant confirmed its pathogenic nature, and classified it as an allele of intermediate severity. Moreover, we discovered several additional ABCA4 variants clustering in intron 36. Several of these variants resulted in aberrant splicing of ABCA4, i.e., the inclusion of pseudoexons, while the splicing defects caused by the recurrent c.5196+1137G>A variant strongly increased upon differentiation of patient-derived induced pluripotent stem cells into retina-like cells. Finally, all splicing defects could be rescued by the administration of antisense oligonucleotides that were designed to specifically block the pseudoexon insertion, including rescue in 3D retinal organoids harboring the c.5196+1137G>A variant. Our data illustrate the importance of intronic variants in ABCA4 and expand the therapeutic possibilities for overcoming splicing defects in Stargardt disease.
