Leber hereditary optic neuropathy (LHON) is a rare, blinding, maternally inherited mitochondrial genetic disease in need of effective treatment. LHON is a nonsyndromic optic neuropathy affecting the retinal ganglion cells (RGCs), whose axons form the optic nerve and extend into the brain via the optic chiasm and optic tracts. The physiopathology of LHON is characterized by selective loss of RGCs and their axons, which leads to rapidly progressive bilateral central vision loss.

MS is a common cause of neurological disability in middle-aged adults. This disease affects over one million people worldwide and is very common within the USA. Age, sex, race, geographical latitude, genetics and environmental exposure are risk factors for developing MS. The median age of onset of MS is approximately 24 years of age with a female to male ratio of two to one. The mean age of death of MS patients is 58 years old, compared to the general national average in the USA of 72 years old. Within the USA, MS is observed more often in Caucasians compared to African-Americans. However, the typical clinical course is more severe within African-Americans who are affected. In regard to geographical patterns, a higher incidence of MS occurs when moving either more north or south of the equator, especially in countries with colder climates. This latitude effect is also present within the USA as the incidence of MS is highest within the upper Midwest and Northeast compared to the South.

BackgroundExtremely preterm infants (EPT, < 29 weeks' gestation) represent only 0.9% of births in the United States; yet these infants are the focus of most published research. Moderately preterm neonates (MPT, 29-33 6/7 weeks) are an understudied group of high-risk infants.MethodsTo determine the neonatal outcomes of MPT infants across the gestational age spectrum, and to compare these with EPT infants. A prospective observational cohort was formed in 18 level 3-4 neonatal intensive care units (NICUs) in the Eunice Kennedy Shriver NICHD Neonatal Research Network. Participants included all MPT infants admitted to NICUs and all EPT infants born at sites between January 2012 and November 2013. Antenatal characteristics and neonatal morbidities were abstracted from records using pre-specified definitions by trained neonatal research nurses.ResultsMPT infants experienced morbidities similar to, although at lower rates than, those of EPT infants. The main cause of mortality was congenital malformation, accounting for 43% of deaths. Central Nervous System injury occurred, including intraventricular hemorrhage. Most MPT infants required respiratory support, but sequelae such as bronchopulmonary dysplasia were rare. The primary contributors to hospitalization beyond 36 weeks' gestation were inability to achieve adequate oral intake and persistent apnea.ConclusionsMPT infants experience morbidity and prolonged hospitalization. Such morbidity deserves focused research to improve therapeutic and prevention strategies.

Importance: Diagnostic errors can lead to the initial misdiagnosis of optic nerve sheath meningiomas (ONSM), which can lead to vision loss. Objective: To identify factors contributing to the initial misdiagnosis of ONSM. Design, Setting, and Participants: We retrospectively reviewed 35 of 39 patients with unilateral ONSM (89.7%) who were seen in the tertiary neuro-ophthalmology practice at Emory University School of Medicine between January 2002 and M arch 2017. The Diagnosis Error Evaluation and Research taxonomy tool was applied to cases with missed/delayed diagnoses. Exposures: Evaluation in a neuro-ophthalmology clinic. Main Outcomes and Measures: Identifying the cause of diagnostic errors for patients who initially received a misdiagnosis who were found to have ONSM. Results: Of 35 patients with unilateral ONSM (30 women [85.7%]; mean [SD] age, 45.26 [15.73] years), 25 (71%) had a diagnosis delayed for a mean (SD) of 62.60 (89.26) months. The most common diagnostic error (19 of 25 [76%]) was clinician assessment failure (errors in hypothesis generation and weighing), followed by errors in diagnostic testing (15 of 25 [60%]). The most common initial misdiagnosis was optic neuritis (12 of 25 [48%]), followed by the failure to recognize optic neuropathy in patients with ocular disorders. Five patients who received a misdiagnosis (20%) underwent unnecessary lumbar puncture, 12 patients (48%) unnecessary laboratory tests, and 6 patients (24%) unnecessary steroid treatment. Among the 16 patients who initially received a misdiagnosis that was later correctly diagnosed at our institution, 11 (68.8%) had prior magnetic resonance imaging (MRI) results that were read as healthy; 5 (45.5%) showed ONSM but were misread by a non-neuroradiologist and 6 (54.5%) were performed incorrectly (no orbital sequence or contrast). Sixteen of the 25 patients (64%) had a poor visual outcome. Conclusions and Relevance: Biased preestablished diagnoses, inaccurate funduscopic examinations, a failure to order the correct test (MRI brain/orbits with contrast), and a failure to correctly interpret MRI results were the most common sources of diagnostic errors and delayed diagnosis with worse visual outcomes and increased cost (more visits and tests). Easier access to neuro-ophthalmologists, improved diagnostic strategies, and education regarding neuroimaging should help prevent diagnostic errors..

Purpose: To estimate the proportion of patients presenting with isolated third, fourth, or sixth cranial nerve palsy of presumed microvascular origin versus other causes. Design: Prospective, multicenter, observational case series. Participants: A total of 109 patients aged 50 years or older with acute isolated ocular motor nerve palsy. Testing: Magnetic resonance imaging (MRI) of the brain. Main Outcome Measures: Causes of acute isolated ocular motor nerve palsy (presumed microvascular or other) as determined with early MRI and clinical assessment. Results: Among 109 patients enrolled in the study, 22 had cranial nerve III palsy, 25 had cranial nerve IV palsy, and 62 had cranial nerve VI palsy. A cause other than presumed microvascular ischemia was identified in 18 patients (16.5%; 95% confidence interval, 10.7-24.6). The presence of 1 or more vasculopathic risk factors (diabetes, hypertension, hypercholesterolemia, coronary artery disease, myocardial infarction, stroke, and smoking) was significantly associated with a presumed microvascular cause (P = 0.003, Fisher exact test). Vasculopathic risk factors were also present in 61% of patients (11/18) with other causes. In the group of patients who had vasculopathic risk factors only, with no other significant medical condition, 10% of patients (8/80) were found to have other causes, including midbrain infarction, neoplasms, inflammation, pituitary apoplexy, and giant cell arteritis (GCA). By excluding patients with third cranial nerve palsies and those with GCA, the incidence of other causes for isolated fourth and sixth cranial nerve palsies was 4.7% (3/64). Conclusions: In our series of patients with acute isolated ocular motor nerve palsies, a substantial proportion of patients had other causes, including neoplasm, GCA, and brain stem infarction. Brain MRI and laboratory workup have a role in the initial evaluation of older patients with isolated acute ocular motor nerve palsies regardless of whether vascular risk factors are present.

Idiopathic intracranial hypertension (IIH) is increasingly recognized as a cause of spontaneous cerebrospinal fluid (CSF) leak in the otolarnygological and neurosurgical literature. The diagnosis of IIH in patients with spontaneous CSF leaks typically is made a few weeks after surgical repair of the leak when symptoms and signs of elevated intracranial pressure (ICP) appear. Case reports and literature review. Two young obese women developed spontaneous CSF rhinorrhea related to an empty sella in one and a cribriform plate encephalocele in the other. Both patients underwent surgical repair of the CSF leak. A few weeks later, they developed chronic headaches and bilateral papilledema. Lumbar punctures showed elevated CSF opening pressures with normal CSF contents, with temporary improvement of headaches. A man with a 3-year history of untreated IIH developed spontaneous CSF rhinorrhea. He experienced improvement of his headaches and papilledema after a CSF shunting procedure, and the rhinorrhea resolved after endoscopic repair of the leak. These cases and the literature review confirm a definite association between IIH and spontaneous CSF leak based on: 1) similar demographics; 2) increased ICP in some patients with spontaneous CSF leak after leak repair; 3) higher rate of leak recurrence in patients with raised ICP; 4) patients with intracranial hypertension secondary to tumors may develop CSF leak, confirming that raised ICP from other causes than IIH can cause CSF leak. CSF leak occasionally may keep IIH patients symptom-free; however, classic symptoms and signs of intracranial hypertension may develop after a CSF leak is repaired, exposing these patients to a high risk of recurrence of the leak unless an ICP-lowering intervention is performed.

BACKGROUND: The prevalence of optic nerve and retinal vascular changes within the obstructive sleep apnea (OSA) population are not well-known, although it has been postulated that optic nerve ischemic changes and findings related to an elevated intracranial pressure may be more common in OSA patients. We prospectively evaluated the ocular fundus in unselected patients undergoing overnight diagnostic polysomnography (PSG). METHODS: Demographic data, medical/ocular history, and nonmydriatic fundus photographs were prospectively collected in patients undergoing PSG at our institution and reviewed for the presence of optic disc edema for which our study was appropriately powered a priori. Retinal vascular changes were also evaluated. OSA was defined using the measures of both sleep-disordered breathing and hypoxia. RESULTS: Of 250 patients evaluated in the sleep center, fundus photographs were performed on 215 patients, among whom 127 patients (59%) had an apnea/hypopnea index (AHI) ≥15 events per hour, including 36 with severe OSA. Those with AHI <15 served as the comparison group. None of the patients had optic disc edema (95% confidence interval [CI]: 0%-3%). There was no difference in rates of glaucomatous appearance or pallor of the optic disc among the groups. Retinal arteriolar changes were more common in severe OSA patients (odds ratio: 1.09 per 5 unit increase in AHI; 95% CI, 1.02-1.16; P = 0.01), even after controlling for mean arterial blood pressure. CONCLUSIONS: We did not find an increased prevalence of optic disc edema or other optic neuropathies in our OSA population. However, retinal vascular changes were more common in patients with severe OSA, independent of blood pressure.

Ocular fundus examination is a fundamental component of the neurologic examination. Finding papilledema in headache patients or retinal arterial emboli in stroke patients can be extremely useful. Although examination of the ocular fundus with a direct ophthalmoscope is an important skill for all neurologists, it is rarely and unreliably performed. Nonmydriatic ocular fundus photography, which allows direct visualization of high-quality photographs of the ocular fundus, has been recently proposed for screening neurologic patients in urgent care settings such as emergency departments. This new technology has many potential applications in neurology, including e-transmission of images for remote interpretation.

PURPOSE OF REVIEW: The purpose of this study is to review commonly encountered adverse ocular effects of illicit drug use. RECENT FINDINGS: Drug and alcohol abuse can produce a variety of ocular and neuro-ophthalmic side effects. Novel, so-called 'designer', drugs of abuse can lead to unusual ocular disorders. Legal substances, when used in manners for which they have not been prescribed, can also have devastating ophthalmic consequences. SUMMARY: In this review, we will systematically evaluate each part of the visual pathways and discuss how individual drugs may affect them.

Ocular fundus examination is a critical part of the physical examination in patients with severely elevated blood pressure (BP), which is defined by the Seventh Report of the Joint National Committee on Prevention, Detection, Evaluation, and Treatment of High Blood Pressure (JNC7) as a BP exceeding 180/120 mm Hg. Indeed, the presence or absence of severe, grade III/IV hypertensive retinopathy helps differentiate hypertensive emergencies requiring intensive care from less severe hypertensive urgencies. As a secondary analysis in the Fundus photography versus Ophthalmoscopy Trial Outcomes in the Emergency Department (FOTO-ED) study, we sought to explore potential risk factors, in particular BP, for the presence of ocular fundus abnormalities relevant to the care of emergency department (ED) patients. We found evidence of acute end-organ ocular damage at lower blood pressures than the JNC7 criteria.