Clinical trials in Leber hereditary optic neuropathy: outcomes and opportunities.

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.

Factors associated with vision loss in idiopathic intracranial hypertension patients with severe papilledema.

Background/objectives: Our aim was to compare factors associated with poor versus good visual outcomes in idiopathic intracranial hypertension (IIH) patients with severe papilledema at initial presentation.

Subjects/methods: Retrospective review of consecutive IIH patients (1/1/2013-6/10/2023) with severe papilledema (Frisén grade 4-5 and/or atrophy in at least one eye); Patients were divided into "poor visual outcome" (poor visual acuity and constricted visual field in at least one eye) and "good visual outcome" (good visual acuity and only mild visual field changes in both eyes) at >6 months for medically-treated patients and >3 months follow-up for surgically-treated patients.

Results: We included 134 IIH patients with severe papilledema (70 had poor and 64 had good visual outcomes).

Meta-analysis of treatment outcomes for patients with m.11778G>A MT-ND4 Leber hereditary optic neuropathy.

Our aim was to assess the visual outcomes of patients with Leber hereditary optic neuropathy (LHON) harboring the m.11778G>A MT-ND4 mutation who had no treatment (natural history) or received idebenone or lenadogene nolparvovec. Efficacy outcomes included clinically relevant recovery (CRR) from nadir and final best-corrected visual acuity (BCVA).

Remote Diagnosis of Retinal Detachment in an Emergency Department Using Nonmydriatic Hybrid Ocular Imaging.

Ocular emergencies are commonly evaluated in general emergency departments (ED) where ophthalmologists are rarely available. Nonmydriatic ocular imaging combining color fundus photographs and optical coherence tomography (NMFP-OCT) can help with rapid remote triage by ophthalmologists. We evaluated the rate at which retinal detachments (RDs) can be diagnosed with NMFP-OCT in the ED.

Eye stroke protocol in in the emergency department.

Background: Visual outcomes of acute central and branch retinal artery occlusions (CRAO/BRAO) are poor and acute treatment options are limited by delayed diagnosis. In the hyper-acute setting, the ocular fundus may appear "normal", making recognition challenging, but is facilitated by retinal optical coherence tomography (OCT), which is seldom available in emergency departments (ED). We evaluated the use of non-mydriatic ocular fundus photographs (NMFP) combined with OCT to facilitate ultra-rapid remote diagnosis and stroke alert for patients with acute vision loss presenting to the ED.

Applying the 2022 optic neuritis criteria to noninflammatory optic neuropathies with optic nerve T2-hyperintensity: an observational study.

Introduction: Recent diagnostic criteria for optic neuritis include T2-hyperintensity of the optic nerve (ON), even without associated contrast enhancement. However, isolated ON-T2-hyperintensity is a nonspecific finding found in any optic neuropathy or severe retinopathy. We applied the 2022 optic neuritis diagnostic criteria to a cohort of patients with noninflammatory optic neuropathy and ON-T2-hyperintensity in at least one eye, to assess the rate of optic neuritis misdiagnosis using these criteria.

Therapeutic benefit of idebenone in patients with Leber hereditary optic neuropathy: The LEROS nonrandomized controlled trial.

Leber hereditary optic neuropathy (LHON) is a mitochondrial disease leading to rapid and severe bilateral vision loss. Idebenone has been shown to be effective in stabilizing and restoring vision in patients treated within 1 year of onset of vision loss. The open-label, international, multicenter, natural history-controlled LEROS study (ClinicalTrials.

Glaucoma as a cause of optic nerve abnormalities on magnetic resonance imaging.

Background/objectives: To report a series of patients with glaucoma and optic nerve abnormalities on magnetic resonance imaging (MRI) in at least one-eye, and to determine whether these findings correlate with the severity of glaucoma.

Patients And Methods: Retrospective study of all patients who underwent a brain/orbits MRI without and with contrast at our institution between 07/1/2019-6/30/2022. Patients with optic nerve T2-hyperintensity and/or MRI optic nerve atrophy in at least one-eye and a diagnosis of isolated glaucoma in at least one-eye were included.

Optic Nerve MRI T2-Hyperintensity: A Nonspecific Marker of Optic Nerve Damage.

Background: MRI abnormalities are common in optic neuropathies, especially on dedicated orbital imaging. In acute optic neuritis, optic nerve T2-hyperintensity associated with optic nerve contrast enhancement is the typical imaging finding. In chronic optic neuropathies, optic nerve T2-hyperintensity and atrophy are regularly seen.

The BONSAI (Brain and Optic Nerve Study with Artificial Intelligence) deep learning system can accurately identify pediatric papilledema on standard ocular fundus photographs.

Background: Pediatric papilledema often reflects an underlying severe neurologic disorder and may be difficult to appreciate, especially in young children. Ocular fundus photographs are easy to obtain even in young children and in nonophthalmology settings. The aim of our study was to ascertain whether an improved deep-learning system (DLS), previously validated in adults, can accurately identify papilledema and other optic disk abnormalities in children.

Seizures as the Initial Manifestation of Idiopathic Intracranial Hypertension Spectrum Disorder.

Idiopathic intracranial hypertension (IIH) is a syndrome of isolated elevated intracranial pressure of unknown aetiology. The IIH spectrum has evolved over the past decade making the diagnosis and management more challenging. The neurological examination in IIH is typically normal except for papilloedema and possible cranial nerve 6 palsy.

Application of a Deep Learning System to Detect Papilledema on Nonmydriatic Ocular Fundus Photographs in an Emergency Department.

Purpose: The Fundus photography vs Ophthalmoscopy Trial Outcomes in the Emergency Department (FOTO-ED) studies showed that ED providers poorly recognized funduscopic findings in patients in the ED. We tested a modified version of the Brain and Optic Nerve Study Artificial Intelligence (BONSAI) deep learning system on nonmydriatic fundus photographs from the FOTO-ED studies to determine if the deep learning system could have improved the detection of papilledema had it been available to ED providers as a real-time diagnostic aid.

Design: Retrospective secondary analysis of a cohort of patients included in the FOTO-ED studies.

Optometric Practice Patterns for Acute Central and Branch Retinal Artery Occlusion.

Background: Optometrists are often the first providers to evaluate patients with acute vision loss and are often the first to diagnose a central retinal artery occlusion (CRAO). How quickly these patients present to the optometrist, are diagnosed, and referred for evaluation are major factors influencing the possibility of acute therapeutic intervention. Our aim was to survey the U.

Characteristics of Vitamin A Deficiency Retinopathy at a Tertiary Referral Center in the United States.

Purpose: To explore the risk factors and fundus imaging features of vitamin A deficiency retinopathy (VADR) in an academic tertiary referral center in Atlanta, GA, United States, and to propose guidance regarding diagnostic workup and management of affected patients.

Design: Single-center retrospective case series.

Subjects: Nine patients seen between 2015 and 2021 at the Emory Eye Center diagnosed with VADR.