Journal of Neuro-Ophthalmology最新文献

Abstract: The 2025 Jacobson Lecture revealed a scientific journey that began with the Cuban epidemic of blindness to recent studies of the quantum mechanical underpinnings of Leber's Hereditary Optic Neuropathy (LHON). A sudden outbreak of bilaterally symmetrical optic neuropathy and peripheral neuropathy in more than 50,000 Cubans in 1993 had been blamed on a viral infection. Further investigations by our team revealed synergistic toxicity of folic acid deficiency and the consumption of homemade rum containing small amounts of methanol. This research led to subsequent findings relevant to LHON, a maternally inherited mitochondrial disease involving Complex I, resulting in retinal ganglion cell death. Later studies show that this was not due to the depletion of adenosine triphosphate but through the accumulation of reactive oxygen species (ROS). The quantum mechanical model, which identifies alterations of quantum electron tunneling as the origin of spilled ROS, changes our understanding of mitochondrial optic neuropathies and redefines LHON as a disease of oxidative stress rather than energy deficit.

Background: Idiopathic intracranial hypertension (IIH) disproportionately affects young, Black, female patients. However, there are limited data characterizing baseline and outcome features of IIH across racial and socioeconomic groups. This study aimed to compare presenting features, initial MRI findings, and visual outcomes of IIH from different racial, ethnic, and insured groups.

Methods: We conducted a retrospective chart review of patients with IIH seen at an academic quaternary care center between July 1, 2013, and September 30, 2023. Patient characteristics collected were self-reported race and ethnicity, insurance status, age, and sex. Clinical features included lumbar puncture (LP) opening pressure; body mass index (BMI); visual acuity (VA), visual field mean deviation, and average retinal nerve fiber layer (RNFL) thickness at presentation and follow up; MRI findings; presence of symptoms (headaches, diplopia, transient visual obscurations, pulsatile tinnitus), treatment(s); and adherence to follow-up recommendations. Patients were excluded if they were already treated for IIH before initial presentation or if diagnostic data were incomplete. Linear, mixed effect, and logistic regression models were used to evaluate differences between racial, ethnic, and insurance status groups. Statistical significance was set at P < 0.05.

Results: Our study included 241 patients. There were no statistically significant differences in BMI, presence of symptoms of high intracranial pressure, visual function, or RNFL thickness at initial evaluation between groups stratified by race, ethnicity, and insurance status. Black patients were more likely to have Medicaid coverage, whereas White patients were more likely to have private insurance (Medicaid: 38% Black vs 14% White; private: 47% Black vs 67% White, P < 0.001). Black patients were more likely to have posterior globe flattening on initial MRI, and patients with Medicare coverage had significantly worse VA outcomes than those with Medicaid coverage. There were no other statistically significant differences in presenting features, clinical outcomes, or adherence to follow-up recommendations across patient subgroups.

Conclusions: There were no statistically significant differences in presenting symptoms of IIH, BMI, LP opening pressure, or adherence to follow-up based on race, ethnicity, or insurance status. Patients with Medicare coverage had worse VA outcomes than those with Medicaid coverage. Otherwise, visual outcomes were similar across groups.

Background: Although fluctuating muscular weakness is the hallmark of myasthenia gravis (MG), research into it, especially during the course of the day, remains limited. Understanding the dynamics of myasthenic symptoms is essential for diagnosis and anticipatory treatment. Therefore, in this study, we used orthoptic and other established quantitative and subjective methods to measure ocular myasthenia gravis (OMG) symptoms throughout the day, during the course of 2 months, and in response to treatment.

Methods: The goal of the study was to determine the change of gaze deviation and ptosis during the course of the day, over 2 months, and 1 hour after pyridostigmine intake. Each subject participated in 3 sessions during the day, 2 follow-up sessions, and 1 measurement before and after pyridostigmine. Measurements included the Quantitative Myasthenia Gravis (QMG) score, palpebral fissure height (PFH) photography, the conventional Hess screen test, and a video Hess screen test using video-oculography. The Myasthenia Gravis Activities of Daily Living score (MG-ADL) was obtained on each assessment day. Sum scores were calculated for the gaze deviations of the inner and outer fields of the conventional and the video Hess screen tests.

Results: Twelve patients were recruited, including 11 patients with ocular and 1 patient with generalized MG (mean age 65.7 years, SD 16.9 years; 11 males). The mean sum scores of both the conventional and the video Hess screen test showed a worsening in the evening, reaching significance in the outer field of the Hess screen test (mean increase 13.4°, SD 15.3°, P = 0.02). Similarly, ptosis also worsened during the day, with a significant decrease in PFH in the evening (mean decrease 0.53 mm, SD 0.55 mm, P = 0.04). Although ptosis improved significantly after pyridostigmine intake (mean increase 0.96 mm, SD 1.05, P = 0.03), no significant changes were observed in the sum deviations of the Hess screen tests ( P = 0.6). Both ptosis and the sum scores generally improved over the 2-month period, even in some patients without any therapeutic adjustments. Correspondingly, the mean QMG and MG-ADL scores decreased.

Conclusions: This prospective cohort study provides insight into the dynamics of OMG, which is crucial for the optimization of diagnostic and therapeutic approaches. Our orthoptic measurements demonstrated the worsening of OMG symptoms after daily activity and a better response of ptosis to pyridostigmine than diplopia. The complexity of this fluctuating disease leads to strong interindividual variability, which requires an individual approach to improve the quality of life of patients with MG.