Journal of Neuro-Ophthalmology最新文献

Background: Teprotumumab is a monoclonal antibody that is effective in treating patients with thyroid eye disease (TED) and has been shown to produce subjective improvements in diplopia in this group. The aims of this study were to evaluate the rate and timing of recurrence/worsening of diplopia after teprotumumab treatment in a cohort of patients with TED presenting with diplopia at baseline.

Methods: A retrospective chart review of 15 patients with diplopia secondary to TED, treated with teprotumumab, was conducted in a single-center academic institution. The primary outcome was the rate of recurrence/worsening of diplopia after completing teprotumumab. Secondary outcomes include the time to recurrence/worsening of diplopia and clinical activity scores (CAS) to correlate with changes in ocular alignment.

Results: Fifteen patients met the inclusion criteria for this study, and 7 of these had recurrence of diplopia (46.7%). Two patients had worsening of CAS to ≥4, 6 had worsening of CAS to 3, and the other 7 had CAS ≤2 during the follow-up period. The mean follow-up period was 20.4 months (SD 7.2) after completing teprotumumab. The mean time to diplopia recurrence/worsening was 8.8 months (range 6.7-12.2, SD 1.8).

Conclusions: Patients with TED and baseline diplopia have a substantial rate of recurrence/worsening of diplopia after teprotumumab therapy, suggesting that they may not have stable ocular alignment immediately after treatment. Strabismus surgeons may need to weigh the significant risk of disease relapse when planning optimum timing for surgical correction.

Background: The clinical characteristics of patients with polymerase gamma ( POLG ) mutation-associated optic neuropathy remain incompletely characterized.

Methods: We describe the clinical characteristics of 3 patients with POLG -associated optic neuropathy. We performed a literature review of optic neuropathy cases associated with POLG mutations and compared them with our cohort.

Results: Many published cases of POLG -associated optic neuropathy in our literature review lacked details regarding severity of vision loss, visual field defects, and optical coherence tomography analysis. The clinical presentation of POLG mutations remains widely variable in age (from pediatric cases to adults) and associated systemic findings. All patients in our literature review presented with systemic symptoms, most commonly muscle weakness, ptosis, and ophthalmoplegia, whereas many young patients had severe systemic symptoms. In our case series, all 3 cases had isolated optic neuropathy affecting the papillomacular bundle, with signs such as reduced visual acuity and color vision, central visual field defects, temporal retinal nerve fiber layer loss with temporal optic disc pallor, and retinal ganglion cell complex loss. In addition, 2 of the 3 cases had added mitochondrial stressors in addition to the POLG mutation.

Conclusions: Clinicians should be aware that POLG mutations can present as isolated optic neuropathy primarily affecting the papillomacular bundle. With mitochondrial failure being the likely underlying pathogenic mechanism in POLG -associated optic neuropathy, helping affected patients eliminate mitochondrial stressors may be important in reducing the risk for progressive vision loss in this otherwise currently untreatable disorder.

Background: Among the symptoms seen in idiopathic intracranial hypertension (IIH), hemifacial spasm (HFS) is rare. Orthostatic-induced HFS preceding lumbar puncture (LP) is previously unreported. We treated two patients with unusual IIH presentations. This case series reviews the few reports of HFS in IIH and proposes a mechanism for spasm occurrence.

Methods: Case 1: A woman in her mid-40s with previously controlled IIH developed daily headache, pulsatile tinnitus, right-sided trigeminal paresthesia, and right-sided HFS. The latter 2 symptoms occurred exclusively when moving from a sitting to a standing position. Imaging was unremarkable; opening pressure (OP) on LP was 46 cmH 2 O with normal cerebrospinal fluid (CSF) components. Case 2: A woman in her late 40s presented with severe daily headache, pulsatile tinnitus, and left-sided HFS following weight gain. Imaging was unremarkable; OP on LP was 32 cmH 2 O with normal CSF components.

Results: HFS episodes persisted following LP in both patients. Increasing and initiating acetazolamide, respectively, resolved all symptoms.

Conclusions: Earlier suggested mechanisms of HFS are based on elevated intracranial pressure (ICP) shifting the facial nerve into proximity of a vascular structure. HFS appearing upon standing and continuing after LP, and thus a lower ICP, contradicts this. We propose a mechanism based on the degree of ICP change. This theory is grounded in the lack of intracranial compliance in IIH, wherein substantial pressure changes occur following small volume changes.

Background: Person-first language (PFL) is a linguistic prescription, which places a person before their disease. It is considered an important tool to reduce stigma. However, PFL is not routinely used across the scientific literature, particularly in patients with overweight or obesity. Patients with idiopathic intracranial hypertension (IIH) face various stigmas through high rates of poverty, female gender, and frequent rates of comorbidities. Non-PFL language use intersects and worsen the health inequities faced by these patients.

Methods: A systematic review of case reports. MEDLINE and EMBASE were searched for all case reports with "pseudotumor cerebri" [MESH] OR "Idiopathic Intracranial Hypertension" as key word between January 1974 and August 2022. The primary criterion was the article's inclusion of patients with overweight or obesity. The secondary criterion was the article's discussion regarding obesity as risk factor. Articles not meeting primary or secondary criteria were excluded.

Results: Approximately 514/716 (71.8%) articles used non-PFL language. The publication year was predictive of non-PFL language: 1976-1991 (82.3%) vs 1992-2007 (72.3%, P = 0.0394) and 2008-2022 (68.3%, P = 0.0056). Non-PFL was significantly higher in obesity compared with other medical conditions (60.3% vs 7.3%, P < 0.001). The patient gender ( P = 0.111) and ethnicity ( P = 0.697), author's specialty ( P = 0.298), and primary English-speaking status ( P = 0.231), as well as the journal's impact factor ( P = 0.795), were not predictive of non-PFL.

Conclusions: Most literature focused on IIH use non-PFL when discussing overweight or obesity, regardless of the patient's gender and ethnicity, journal's impact factor, senior author's specialty, and English-speaking status. Non-PFL use is much more common when discussing obesity compared with other medical conditions. Appropriate use of PFL can decrease stigma and, more importantly, decrease the intersectionality of health stigma faced by patients with IIH.

Background: Multiple myeloma (MM) is a malignant disorder of plasma cells that results in tumor cells replacing the bone marrow. In extramedullary MM (EMM), however, tumor cells proliferate outside the bone marrow. EMM may produce ophthalmoplegia through direct invasion of the superior orbital fissure, cavernous sinus, and/or sphenoidal sinus. Several mechanisms have been proposed including cranial nerve palsies, direct infiltration of bone, extraocular muscle metastasis, myelomatous meningitis, and parenchymal or paraneoplastic effects.

Methods: We retrospectively reviewed the medical records of 7 patients at MD Anderson Cancer Center who suffered from ophthalmoplegia secondary to extramedullary MM between 2019 and 2021. We collected information regarding the symptoms, signs, radiographic and laboratory findings, management, complications, and prognosis of these patients throughout their disease course.

Results: Skull base MRI revealed 4 patients with ophthalmoplegias secondary to superior orbital fissure invasion, 2 patients with ophthalmoplegias secondary to cavernous sinus invasion, and 1 patient with ophthalmoplegia secondary to sphenoid sinus invasion.

Conclusions: This is a case series describing 7 patients with ophthalmoplegias secondary to EMM. Our article is unique because of the size of the included cohort, which is large when compared with most English language publications detailing such ophthalmoplegias.