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Clinical Characterization, Natural History, and Detailed Phenotyping of NMNAT1-Associated Leber Congenital Amaurosis.
Am J Ophthalmol
December 2024
Department of Anatomy and Cell Biology, Seoul National University College of Medicine, 103 Daehak-ro, Jongno-gu, Seoul, 03080, Republic of Korea. Electronic address:
Purpose: To characterize the clinical phenotype and disease progression in patients with NMNAT1-associated Leber congenital amaurosis (LCA) within the Korean population.
Design: Retrospective, observational case series.
Subjects: Fourteen patients with LCA with biallelic variants of NMNAT1 at a single tertiary referral center.
Evaluation of Optic Disc Drusen Using Modern Imaging Paraclinical Methods.
Cesk Slov Oftalmol
December 2024
Purpose: To analyze patients with optic disc drusen (ODD), with emphasis on modern diagnostics.
Materials And Methods: Research of the literature was conducted, together with a retrospective statistical analysis of patients with ODD. The group included individuals with ODD diagnosed using at least one of the following (ultrasound - USG, optical coherence tomography - OCT, fundus autofluorescence - FAF).
Clinical trials in Leber hereditary optic neuropathy: outcomes and opportunities.
Curr Opin Neurol
December 2024
Department of Ophthalmology, Emory University School of Medicine.
Purpose Of Review: Leber hereditary optic neuropathy (LHON) is a mitochondrial DNA disease characterised by sequential bilateral vision loss due to loss of retinal ganglion cells. The purpose of this review is to provide an update on the results of recent clinical trials for LHON, focusing on studies of idebenone and lenadogene nolparvovec gene therapy.
Recent Findings: Evidence from three clinical studies (RHODOS, RHODOS-OFU, and LEROS) suggest that idebenone should be started early and continued for at least 24 months.
Tocilizumab for Cystoid Macular Edema Secondary to Immune Recovery Uveitis in a Patient with Contraindications to Long-Term Systemic Corticosteroid.
Yale J Biol Med
December 2024
Spencer Center for Vision Research, Byers Eye Institute, Stanford University, Palo Alto, CA, USA.
: To report a case of cystoid macular edema (CME) secondary to immune recovery uveitis (IRU) in a patient with previous history of cytomegalovirus (CMV) retinitis and leukemia, which was successfully treated with tocilizumab (TCZ), an interleukin-6 (IL-6) receptor antagonist. : The clinical records of the case were reviewed, focusing on demographics, image findings, and clinical course. : A 17-year-old female with a past medical history of T-cell acute lymphoblastic leukemia (T-ALL) undergoing chemotherapy for two years presented with active CMV retinitis.
View Article and Find Full Text PDFThe Orbitomalar Ligament: A Cleavage Plane in Oculofacial Trauma.
Ophthalmic Plast Reconstr Surg
December 2024
Section of Ophthalmology, Department of Surgery.
We describe an oculofacial injury phenotype manifesting as a cleavage plane following the orbitomalar ligament in 5 cases. Across these cases, curvilinear wounds followed the course of the orbitomalar ligament, running clean planes through orbicularis oculi down to the infraorbital rim and arcus marginalis. One case involved bilateral orbitomalar ligaments, and 1 case involved the inferior canaliculus.
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