Vitreopapillary Traction in Stickler Type IV COL9A1.

This case report describes a woman aged 43 years with Stickler syndrome and bilateral vitreopapillary traction who presented with shadows and ghosting of vision in both eyes.

Analysis of Retinal Structure and Electrophysiological Function in Visual Snow Syndrome: An Exploratory Case Series.

BACKGROUND: Visual snow (VS) is a rare but distressing phenomenon of persistent granular or pixelated visual distortions that may occur in isolation or as a component of visual snow syndrome (VSS). The current understanding of VS pathogenesis, including the role of retinal involvement structurally and functionally, is limited. The objective of this study is to investigate retinal structural and electrophysiological abnormalities in VS. METHODS: This retrospective case series included 8 subjects (7 with VSS and 1 with isolated VS). Patients with other ocular and neurologic diseases were excluded. Data were assessed from automated perimetry, optical coherence tomography (OCT), visual evoked potential (VEP), and full-field electroretinography (ffERG) testing. The VEP and ffERG data of visual snow subjects were compared with age- and sex-matched control subjects for statistical significance. RESULTS: The mean age of the cohort was 29.4 years (SD = ±5.3) with 50% gender split. The mean age of VS onset was 24.2 years (SD = ±3.8). All subjects had normal visual acuity, color vision, brain MRI, automated perimetry, OCT parameters (peripapillary retinal nerve fiber layer and macular ganglion cell layer thickness), and P100 and N135 wave pattern on VEP. Compared with controls, VS subjects had a greater mean b-wave amplitude in response to light-adapted 3.0 stimuli ( t test; P = 0.035 right eye and P = 0.072 left eye), greater mean light-adapted 3.0 flicker amplitude ( t test; P = 0.028 right eye P = 0.166 left eye) and greater b-wave amplitude in response to dark-adapted 10.0 stimuli ( t test; P = 0.102 right eye; P = 0.017 left eye) on ERG. CONCLUSIONS: Patients with VS and VSS have normal retinal structure, but abnormal electrophysiology compared with control subjects. The increased b-wave and flicker amplitudes observed with ffERG suggest increased responsiveness of the rod and cone photoreceptors and may contribute to VS pathophysiology.

Details and outcomes of a large cohort of MOG-IgG associated optic neuritis.

BACKGROUND: The goal of this study was to examine the temporal relationship of eye pain to visual loss and investigate whether timing of steroid treatment affects the rate and extent of visual recovery in optic neuritis (ON) from MOG-IgG associated disease (MOGAD) in a large cohort of MOGAD patients with ON. METHODS: This is a multicenter, retrospective cohort study of consecutive MOGAD patients with ON attacks seen from 2017 to 2021 fulfilling the following criteria: (1) clinical history of ON; (2) MOG-IgG seropositivity. ON attacks were evaluated for presence/duration of eye pain, nadir of vision loss, time to intravenous methylprednisolone (IVMP) treatment, time to recovery, and final visual outcomes. RESULTS: There were 107 patients with 140 attacks treated with IVMP and details on timing of treatment and outcomes. Eye pain was present in 125/140 (89%) attacks with pain onset a median of 3 days (range, 0 to 20) prior to vision loss. Among 46 ON attacks treated with IVMP within 2 days of onset of vision loss, median time to recovery was 4 days (range, 0 to 103) compared to 15 days (range, 0 to 365) in 94 ON attacks treated after 2 days (p = 0.004). Those treated within 2 days had less severe VA loss at time of treatment (median LogMAR VA 0.48, range, 0.1 to 3) compared to those treated after 2 days (median LogMAR VA 1.7, range, 0 to 3; p < 0.001), and were more likely to have a VA outcome of 20/40 or better (98% vs 83%, p = 0.01). After adjustment for the initial VA at time of treatment, the differences in final VA were no longer significantly different (p = 0.14). In addition, some patients were documented to recover without steroid treatment. CONCLUSION: This study suggests that pain precedes vision loss in the majority of ON attacks and early steroids may lead to better outcomes in MOG-IgG ON, but some patients can recover without steroid treatment. Prospective randomized clinical trials are required to confirm these findings.

Worsening Restless Leg Syndrome Symptoms as a Presentation of Colon Cancer: A Reminder to Work Up the Anemia.

Restless leg syndrome (RLS) is a common neurological disorder with an estimated prevalence of 10-35% in people over 65 years of age. Current clinical practice guidelines include the recommendation to check serum ferritin levels and provide iron supplementation if the ferritin level is ≤75 µg/L. We present a case of an 84-year-old man who developed worsening RLS symptoms over the past year despite up-titration of oral ropinirole to maximum daily dose. As part of his workup for RLS, his serum ferritin level was found to be severely low. He was also previously noted to be anemic, so we recommended that he be worked up for iron deficiency anemia. He later received a colonoscopy, which revealed a cecal polyp with high grade dysplasia, and then underwent right hemicolectomy. The patient reported significant improvement in RLS symptoms following the surgery. This case demonstrates the importance of working up iron deficiency anemia in the setting of worsening RLS symptoms, particularly in the geriatric population.

Swallow-Induced Eyelid Myokymia: A Novel Synkinesis Syndrome.

Herein, we describe a novel manifestation of facial nerve synkinesis, swallow-induced eyelid myokymia, and hypothesise that this phenomenon is due to synkinetic facial nerve innervations of the stylohyoid-posterior digastric complex of suprahyoid muscles and orbicularis oculi muscle. In our patient's case, onabotulinum toxin A treatment provided good therapeutic response. Swallow-induced eyelid myokymia is a unique and previously unreported variety of facial nerve synkinesis.

Magnetic resonance imaging findings in Parinaud's syndrome: comparing pineal mass findings to other etiologies.

PURPOSE: In a recent study, it was found that, although intrinsic midbrain signal abnormality (IMSA) on MRI is associated with Parinaud's syndrome (PS) in patients with pineal gland masses (PM), it had no predictive value with respect to resolution of PS. We sought to compare the PM and non-pineal etiologies (NPE) of PS by reviewing imaging features of PS and whether or not they are predictive of resolution of symptoms. METHODS: We reviewed electronic medical records from 1980 to 2017 and identified 71 patients with PS from any etiology who had MR imaging: 26 with PM and 45 with NPE. We subdivided the 45 NPE patients into those with intrinsic midbrain lesions (IMBL) (n = 23) and those with extrinsic midbrain lesions (EMBL) (n = 22). PS resolution and hydrocephalus data were collected. Imaging studies were reviewed for the presence of IMSA and hydrocephalus. RESULTS: PS patients with EMBL were less likely to have IMSA than those with PM or IMBL (p ≤0.001). PS resolution occurred more commonly with PM than IMBL and NPE (p = 0.03, p = 0.01). For all NPE patients, resolution of PS occurred with equal frequency in patients with and without IMSA (p = 1.00). Hydrocephalus occurred more frequently in patients with PM and EMBL than IMBL (p = 0.01, p = 0.03). CONCLUSIONS: IMSA is present more often in patients with PS from PM or IMBL than in patients with EMBL. EMBL, including PM, have an increased likelihood for PS resolution. There is no predictive value of IMSA with respect to resolution of PS in NPE as well as PM.

MRI findings in Parinaud's syndrome: a closer look at pineal masses.

PURPOSE: The association between MRI findings in patients with pineal lesions and the presence or absence of Parinaud's syndrome (PS) remains poorly described. We sought to better understand what MRI characteristics of a pineal lesion make PS more likely. Can these features predict prognosis for clinical resolution? Based on the anatomical relationship of the pineal gland and midbrain, we hypothesized that the degree of midbrain injury by a pineal mass as assessed by abutment, displacement, or intrinsic midbrain signal abnormality (IMSA) may predict PS. METHODS: We reviewed our institution's databases to find patients with MRI evidence of an intrinsic lesion of the pineal gland. Seventy-seven patients with intrinsic pineal gland lesions, 26 with PS and 51 without PS (NPS), were identified. Data regarding clinical history were collected, and an experienced neuroradiologist reviewed all MRI studies and recorded mass size, midbrain abutment, displacement by the pineal lesion, and presence or absence of IMSA. RESULTS: IMSA occurred with increased frequency in pineal lesions with PS (85%) when compared with NPS (39.2%) (p = 0.0001). Midbrain abutment, compression, and displacement occurred with similar frequencies in both groups, with no statistically significant difference. Hydrocephalus was present in 80.8% of patients with PS and 84% without PS (p = 0.75). CONCLUSION: IMSA in a patient with an intrinsic pineal gland mass is associated with PS. Other findings such as hydrocephalus and midbrain displacement are common in patients with pineal masses both with and without PS and do not have any predictive value.