Osteopathia striata with cranial sclerosis causing a compressive optic neuropathy.

BACKGROUND: Osteopathia striata combined with cranial sclerosis (OS-CS) is an inherited skeletal dysplasia that manifests with macrocephaly, orofacial abnormalities, thickened craniofacial bones, and vertically oriented radiodensities of the long bones. CASE REPORT: Here, we present a severe case of OS-CS in a 4-year-old girl causing optic neuropathy as shown by radiographic evidence, ophthalmic findings, and histopathology. Previous genetic testing in this patient revealed a de novo heterozygous mutation in AMER1 (c.1057C>T, p.Arg353Ter). Although the patient had a pre-existing, appropriately functioning, ventriculoperitoneal (VP) shunt, a subsequent MRI of the brain and orbits showed narrowing of the bilateral optic nerve canals secondary to osseous thickening causing bilateral optic nerve atrophy, worse on the left. The patient underwent staged bilateral orbital osteotomies, optic canal decompression, and bilateral frontal craniotomy, and at 11 months postoperatively, her vision remained stable. Conclusions: While up to 50% of the patients with OS-CS may experience hearing loss due to cranial nerve compression, we present a case of severe visual loss secondary to OS-CS-associated optic nerve compression.

Telemedicine Evaluations in Neuro-Ophthalmology During the COVID-19 Pandemic: Patient and Physician Surveys.

BACKGROUND: The novel coronavirus 2019 (COVID-19) pandemic has transformed health care. With the need to limit COVID-19 exposures, telemedicine has become an increasingly important format for clinical care. Compared with other fields, neuro-ophthalmology faces unique challenges, given its dependence on physical examination signs that are difficult to elicit outside the office setting. As such, it is imperative to understand both patient and provider experiences to continue to adapt the technology and tailor its application. The purpose of this study is to analyze both neuro-ophthalmology physician and patient satisfaction with virtual health visits during the time of the COVID-19 pandemic. METHODS: Across three institutions (NYU Langone Health, Indiana University Health, and Columbia University Medical Center), telemedicine surveys were administered to 159 patients. Neuro-ophthalmologists completed 157 surveys; each of these were linked to a single patient visit. Patient surveys consisted of 5 questions regarding visit preparation, satisfaction, challenges, and comfort. The physician survey included 4 questions that focused on ability to gather specific clinical information by history and examination. RESULTS: Among 159 patients, 104 (65.4%) reported that they were satisfied with the visit, and 149 (93.7%) indicated that they were comfortable asking questions. Sixty-eight (73.9%) patients found the instructions provided before the visit easy to understand. Potential areas for improvement noted by patients included more detailed preparation instructions and better technology (phone positioning, Internet connection, and software). More than 87% (137/157) of neuro-ophthalmologists surveyed reported having performed an examination that provided enough information for medical decision-making. Some areas of the neuro-ophthalmologic examination were reported to be easy to conduct (range of eye movements, visual acuity, Amsler grids, Ishihara color plates, and pupillary examination). Other components were more difficult (saccades, red desaturation, visual fields, convergence, oscillations, ocular alignment, and smooth pursuit); some were especially challenging (vestibulo-ocular reflex [VOR], VOR suppression, and optokinetic nystagmus). Clinicians noted that virtual health visits were limited by patient preparation, inability to perform certain parts of the examination (funduscopy and pupils), and technological issues. CONCLUSIONS: Among virtual neuro-ophthalmology visits evaluated, most offer patients with appointments that satisfy their needs. Most physicians in this cohort obtained adequate clinical information for decision-making. Even better technology and instructions may help improve aspects of virtual health visits.

Introducing the 24-2C Visual Field Test in Neuro-Ophthalmology.

PURPOSE: The Humphrey 24-2C visual field test is a modified 24-2 visual field test that incorporates 10 additional test points in the central 10° of vision. This study compares the new 24-2C test to the standard Humphrey 10-2 visual field test in patients presenting for neuro-ophthalmology evaluation to evaluate its ability to detect central visual field defects. METHODS: Twenty-five neuro-ophthalmology patients (42 eyes) underwent both 24-2C and 10-2 visual field testing using the Humphrey perimeter. The number of flagged total deviation (TD) and pattern deviation (PD) points of the 10 added test points of the 24-2C were compared with the corresponding 10-2 fields at the P < 5%, P < 2%, and P < 1% significance levels. The total number of flagged TD points were further analyzed by diagnosis. An experienced neuro-ophthalmologist evaluated all visual fields, commenting on the added value for clinical practice. RESULTS: There was no significant difference between the number of flagged TD and PD points of the 10 extra 24-2C points and corresponding 10-2 points at all significance levels. When analyzed by diagnosis, there was no significant difference in the number of flagged TD points in patients with optic neuritis, ischemic optic neuropathy, optic atrophy, and no neuro-ophthalmic disease. The added 24-2C points aided in identifying visual field defects and areas of spared central vision and had similar diagnostic value as the 10-2. CONCLUSIONS: The 24-2C is able to detect visual field loss in the central 10° that corroborates with loss detected in the 10-2 pattern. The 24-2C exhibits potential to be used as a hybrid between the 24-2 and 10-2 to better evaluate visual field defects.

Tonic pupil caused by adenoid cystic carcinoma versus postradiation changes to the ciliary ganglion.

A tonic pupil, without other features of an oculomotor neuropathy, is due to a lesion in the ciliary ganglion or short ciliary nerves. Here, we present a case of a tonic pupil in a woman with radiation-treated adenoid cystic carcinoma of the nasopharynx with perineural spread and skull base involvement. This a rare case of a tonic pupil caused by direct invasion of the ciliary ganglion or postradiation effects.

CONTRALATERAL ANESTHESIA IN TWO PATIENTS AFTER RETROBULBAR BLOCK.

PURPOSE: To report a case series of two patients with contralateral anesthesia after retrobulbar block. METHODS: Retrospective review of two cases and review of the literature. RESULTS: Two patients of one practitioner received contralateral anesthesia after retrobulbar block for posterior segment surgery. Patient 1 suffered from transient contralateral akinesia, whereas Patient 2 experienced transient contralateral amaurosis. CONCLUSION: Posterior spread of anesthetics is a rare but potentially serious complication of retrobulbar anesthesia caused by spread of anesthetics along the optic nerve sheath. Modification of injection technique can decrease the risk of this complication.

Optic pathway glioma of childhood.

PURPOSE OF REVIEW: Optic pathway gliomas (OPG) are the most common tumor of the anterior visual pathway and can involve the optic nerve, chiasm, tract, and optic radiations. They are typically benign lesions, often pilocytic astrocytomas, which are diagnosed in childhood. We review the epidemiology, clinical presentation, diagnosis, and management of these lesions in patients with and without neurofibromatosis type 1 (NF-1). RECENT FINDINGS: Most commonly, patients diagnosed with OPG have NF-1 especially if the lesions are bilateral. Such lesions tend to have a relatively indolent course and at least 50% of patients have no evidence of visual loss. Rarely, children without NF-1 may sporadically develop OPG with such lesions often having a more aggressive nature and greater propensity for visual dysfunction. The gold standard for diagnosis and follow-up are thorough neuro-ophthalmic examinations with specific attention to visual acuity. Management must be individualized and may comprise conservative follow-up, chemotherapy, radiation and/or surgical intervention. SUMMARY: OPG may range in their behavior based upon the nature of the tumor (NF-1 or sporadic). Current guidelines recommend following patients with regular clinical examinations. Management of these lesions is highly individualized based upon the nature and extent of the lesion, visual function and side-effect profile of the treatment. Clinicians should be aware of the available options to determine which may be best suited for their patient.

Sagging Eye Syndrome or Nemaline Rod Myopathy? Divergence Insufficiency with Levator Dehiscence as an Overlapping Symptom between Two Diagnoses.

A 78-year-old woman complained of gradual, painless onset of horizontal binocular diplopia associated with progressive axial weakness. Physical examination revealed esotropia that was greater at distance than at near vision, bilateral levator dehiscence, and normal abducting saccadic speeds. Given the age of the patient and compatible clinical findings, the diagnosis of Sagging Eye Syndrome (SES) was made. However, further work-up with a muscle biopsy suggested Sporadic Late-Onset Nemaline Myopathy (SLONM) as the cause of her progressive muscle weakness. Although rare, external ophthalmoplegia has been described in the literature as a presenting symptom in SLONM. To elucidate the pathological mechanism for the patient's diplopia, an MRI of the orbits was performed, which revealed findings consistent with SES. This case aims to highlight the importance of integrating clinical findings during the diagnostic process and serves as a reminder that diplopia can be a common symptom for an uncommon diagnosis.

Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations.

BACKGROUND: Hereditary Fibrosing Poikiloderma (HFP) with tendon contractures, myopathy and pulmonary fibrosis (POIKTMP [MIM 615704]) is a very recently described entity of syndromic inherited poikiloderma. Previously by using whole exome sequencing in five families, we identified the causative gene, FAM111B (NM_198947.3), the function of which is still unknown. Our objective in this study was to better define the specific features of POIKTMP through a larger series of patients. METHODS: Clinical and molecular data of two families and eight independent sporadic cases, including six new cases, were collected. RESULTS: Key features consist of: (i) early-onset poikiloderma, hypotrichosis and hypohidrosis; (ii) multiple contractures, in particular triceps surae muscle contractures; (iii) diffuse progressive muscular weakness; (iv) pulmonary fibrosis in adulthood and (v) other features including exocrine pancreatic insufficiency, liver impairment and growth retardation. Muscle magnetic resonance imaging was informative and showed muscle atrophy and fatty infiltration. Histological examination of skeletal muscle revealed extensive fibroadipose tissue infiltration. Microscopy of the skin showed a scleroderma-like aspect with fibrosis and alterations of the elastic network. FAM111B gene analysis identified five different missense variants (two recurrent mutations were found respectively in three and four independent families). All the mutations were predicted to localize in the trypsin-like cysteine/serine peptidase domain of the protein. We suggest gain-of-function or dominant-negative mutations resulting in FAM111B enzymatic activity changes. CONCLUSIONS: HFP with tendon contractures, myopathy and pulmonary fibrosis, is a multisystemic disorder due to autosomal dominant FAM111B mutations. Future functional studies will help in understanding the specific pathological process of this fibrosing disorder.

Central Microscotoma: A Rare Presentation of Epiretinal Membranes.

BACKGROUND AND OBJECTIVE: Patients with a symptomatic epiretinal membrane (ERM) typically complain of metamorphopsia and decreased visual acuity. We describe three patients who presented with the single complaint of a central microscotoma due to ERM, an infrequent initial symptom of this entity. PATIENTS AND METHODS: This is a retrospective, interventional, non-comparative case series. Three patients with the chief complaint of a central microscotoma related to ERMs who underwent pars plana vitrectomy by a single surgeon experienced full resolution of the preoperative microscotoma. Best-corrected visual acuity, fundus photography, and optical coherence tomography were obtained at each examination. A comprehensive neuro-ophthalmologic evaluation was performed in all cases, including magnetic resonance imaging of the orbits and brain, automated visual fields, multifocal electroretinography, multifocal visually evoked potentials, and blood tests. RESULTS: Three eyes of three patients who presented with the initial sole complaint of a central microscotoma due to ERM are included in this series. A comprehensive neuro-ophthalmologic evaluation ruled out non-retinal etiologies. After months of observation, a pars plana vitrectomy with ERM and internal limiting membrane peeling was performed in all patients. Postoperatively, the patients experienced a complete resolution of their initial, isolated complaint of a central microscotoma. CONCLUSION: Central microscotoma, as a rare stand-alone presentation of ERM, is described. This symptom resolved after a successful removal of the ERM. A greater awareness among clinicians that ERMs may present in this manner may help avoid excessive and costly medical evaluations.

Jak2 mutation-positive polycythemia vera presenting as central retinal artery occlusion.

PURPOSE: To report the case of a 49-year-old man who presented with profound visual loss in his right eye because of a central retinal artery occlusion, accompanied by a stroke in the ipsilateral middle cerebral artery with left upper extremity sequelae. METHODS: The patient underwent a comprehensive ophthalmologic examination, fluorescein angiography, thorough neuroophthalmology evaluation, including magnetic resonance imaging and magnetic resonance angiography, 12-lead electrocardiogram, transesophageal echocardiogram, bilateral carotid artery Doppler, Holter monitoring, comprehensive laboratory testing, bone marrow biopsy, and genetic testing. RESULTS: Despite an initially normal hematocrit, the etiology of the central retinal artery occlusion and that of the nearly concomitant stroke in the right medial cerebral artery territory was confirmed by bone marrow biopsy to be polycythemia vera (positive JAK2 mutation). Patient received treatment with aspirin, serial phlebotomies, and hydroxyurea, demonstrating a slight improvement in vision and substantial normalization of neurologic and hematological status. At the time of this report, 2 years later, patient remains stable. CONCLUSION: Central retinal artery occlusion, a disease with a frequently devastating visual outcome, is often not an "isolated" ocular occurrence. In the absence of an obvious local trigger, a thorough work-up is always warranted, especially in younger patients, as the ocular pathology oftentimes may herald severe cerebro-cardiovascular events.

Vision loss with bending over.

A 66-year-old African American man presented with episodic transient visual loss triggered by bending forward. The initial examination did not suggest intraocular pathology and the patient was nearly sent for vascular evaluation given his cardiovascular risk factors. Fundus photographs taken during an episode of visual loss suggested an intraocular process, however. Gonioscopy revealed a microhyphema causing a "snow globe" effect in the anterior chamber, most likely related to recent bleb manipulation in the affected eye.

Downbeat nystagmus secondary to familial hemophagocytic lymphohistiocytosis.

Hemophagocytic lymphohistiocytosis is a rare autosomal recessive disorder characterized by severe inflammation induced by defective natural killer cell function, which triggers a state of highly stimulated but ineffective immune response. This disorder can affect multiple organ systems, and neurologic manifestations include irritability, seizures, impaired consciousness, meningismus, and cranial nerve palsies. We describe a unique case of hemophagocytic lymphohistiocytosis in which downbeat nystagmus developed due to cerebellar swelling with compression of the cervicomedullary junction.

Occult temporal arteritis in a 54-year-old man.

A 54-year-old white man with a remote history of pars planitis reported transient monocular visual loss (TMVL) in the left eye on standing. The following week he experienced multiple similar episodes. He denied associated systemic symptoms. Initial examination showed old peripheral retinal vascular sheathing and delayed retinal arterial filling time. Complete blood count, erythrocyte sedimentation rate, and MRI studies of the head and neck were normal. One week later, there were multiple cotton wool spots in the posterior pole, a relative afferent pupillary defect, and subtle visual field loss in the left eye. Evaluation for infectious, inflammatory, or embolic etiologies was nonrevealing. Biopsy of the prominent but nontender temporal arteries showed granulomatous inflammation, fragmentation, and duplication of the internal elastic lamina consistent with the temporal arteritis (TA). Radiography and MRI of the chest revealed dilation of the ascending aorta. The patient began treatment with high-dose oral steroids with resolution of his TMVL and retinal cotton wool spots and decrease in the size of the temporal arteries. Our case demonstrates the importance of considering TA in the setting of TMVL, visual loss, cotton wool spots, or dilated nontender temporal arteries in an otherwise asymptomatic patient even with normal inflammatory markers. Long-term follow-up is essential in unusual cases such as this one, given the high risk of ocular and systemic morbidity with TA.