Glycosylation type Ic disorder: idiopathic intracranial hypertension and retinal degeneration.
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ABSTRACT:
SUBMITTER: Kahook MY
PROVIDER: S-EPMC1478164 | biostudies-literature | 2006 Jan
REPOSITORIES: biostudies-literature
Publications
Glycosylation type Ic disorder: idiopathic intracranial hypertension and retinal degeneration.
Kahook M Y MY Mandava N N Bateman J B JB Thomas J A JA
The British journal of ophthalmology 20060101 1
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Project description:Information on the hypothalamic pituitary ovarian axis in congenital disorders of glycosylation (CDG) females is scarce. Varying hormonal profiles and degrees of virilization in CDG females suggest a spectrum of yet unidentified mechanisms affected by impaired N-glycosylation. We describe an ALG6D woman who completed puberty with normal gonadotropins and testosterone levels, no virilization, and regular menses. Hormonal follow-up of CDG females is necessary to improve our understanding of the role of glycosylation in pubertal development.
| S-EPMC3869397 | biostudies-literature
Project description:BackgroundIncreased intracranial pressure (ICP) in patients with idiopathic intracranial hypertension (IIH) affects the retinal microvasculature, which can be imaged and quantified by optical coherence tomography angiography (OCTA). We aimed to identify the mediating factor between ICP and OCTA parameters association in IIH patients.MethodsIIH patients with active intracranial hypertension were enrolled. OCTA imaging was performed after ICP measurement. We quantified the branching complexity of the retinal arterioles and venules from the superficial vascular complex of the OCTA image. Eyes of IIH patients were stratified into eyes with papilledema (IIH-P) and eyes without papilledema (IIH-WP). All participants underwent visual acuity (VA) examination.ResultsOne hundred and thirty-eight eyes from 70 IIH patients and 146 eyes from 73 controls were included. Compared to the control group, IIH patients and IIH-P had reduced arteriole complexity and increased venule complexity (p < 0.05). For IIH patients and IIH-P, increased retinal venule complexity correlated with increased ICP and reduced VA (p < 0.05); while decreased arteriole complexity only correlated with Frisen scores (p = 0.026). Papilledema mediated the effect (p < 0.001) between ICP and arteriole complexity while ICP had a direct effect (p < 0.001) on venule complexity.ConclusionRetinal venules imaged via OCTA may reflect ICP levels and may underpin the direct effect of increased ICP in IIH patients.
| S-EPMC11490018 | biostudies-literature
Project description: Not available
| S-EPMC3216431 | biostudies-literature
Project description:ObjectiveTo characterize the phenotype, headache-related disability, medical co-morbidities, use of symptomatic headache medications, and headache response to study interventions in the Idiopathic Intracranial Hypertension Treatment Trial (IIHTT).MethodsPatients with untreated IIH and mild vision loss enrolled in the IIHTT and randomized to acetazolamide (ACZ) and weight loss or placebo (PLB) and weight loss had prospective assessment of headache disability using the Headache Impact Test-6 (HIT-6) questionnaire. Subjects with headache at the baseline visit were assigned a headache phenotype using the International Classification for Headache Disorders version 3 beta (ICHD-3b). Medication overuse was determined using the participants' reported medication use for the preceding month and ICHD-3b thresholds for diagnosing medication overuse headache. We investigated relationships between headache disability and various other clinical characteristics at baseline and at 6 months.ResultsHeadache was present in 139 (84%) of the 165 enrollees at baseline. The most common headache phenotypes were migraine (52%), tension-type headache (22%), probable migraine (16%), and probable tension-type headache (4%). Fifty-one (37%) participants overused symptomatic medications at baseline, most frequently simple analgesics. A similar amount of improvement in the adjusted mean (± standard error) HIT-6 score occurred in the ACZ (-9.56 ± 1.05) and PLB groups (-9.11 ± 1.14) at 6 months (group difference -0.45, 95% CI -3.50 to 2.60, P = .77). Headache disability did not correlate with any of the studies, variables of interest, which included: the lumbar puncture opening pressure at baseline or at 6 months, body mass index, the amount of weight lost, papilledema grade, perimetric mean deviation, or the use of hormonal contraception. Headache disability was significantly associated with patient-reported quality of life in the physical, mental, and visual domains.ConclusionsHeadache was common, of varied character, disabling, and associated with poorer quality of life in our cohort of patients with mild visual impairment. The lack of correlation between headache disability and cerebrospinal fluid (CSF) pressure at baseline and at the end of the randomized phase of the study implies that headache in IIH may be related to factors other than intracranial hypertension, and that specific headache treatment is needed in addition to therapies directed at lowering CSF pressure.
| S-EPMC5799151 | biostudies-literature
Project description: Not available
| S-EPMC7173709 | biostudies-literature
Project description:Treatment for a patient who presented with severe headaches and decreased vision caused by idiopathic intracranial hypertension was complicated by nonadherence and pregnancy, but the patient's symptoms resolved after a successful delivery.
| S-EPMC6364811 | biostudies-literature
Project description:ObjectiveTo delineate the factors contributing to overdiagnosis of idiopathic intracranial hypertension (IIH) among patients seen in one neuro-ophthalmology service at a tertiary center.MethodsWe retrospectively reviewed new patients referred with a working diagnosis of IIH over 8 months. The Diagnosis Error Evaluation and Research taxonomy tool was applied to cases referred with a diagnosis of IIH and a discrepant final diagnosis.ResultsOf 1,249 patients, 165 (13.2%) were referred either with a preexisting diagnosis of IIH or to rule out IIH. Of the 86/165 patients (52.1%) with a preexisting diagnosis of IIH, 34/86 (39.5%) did not have IIH. The most common diagnostic error was inaccurate ophthalmoscopic examination in headache patients. Of 34 patients misdiagnosed as having IIH, 27 (27/34 [79.4%]; 27/86 [31.4%]) had at least one lumbar puncture, 29 (29/34 [85.3%]; 29/86 [33.7%]) had a brain MRI, and 8 (8/34 [23.5%]; 8/86 [9.3%]) had a magnetic resonance/CT venogram. Twenty-six had received medical treatment, 1 had a lumbar drain, and 4 were referred for surgery. In 8 patients (8/34 [23.5%]; 8/86 [9.3%]), an alternative diagnosis requiring further evaluation was identified.ConclusionsDiagnostic errors resulted in overdiagnosis of IIH in 39.5% of patients referred for presumed IIH, and prompted unnecessary tests, invasive procedures, and missed diagnoses. The most common errors were inaccurate ophthalmoscopic examination in headache patients and thinking biases, reinforcing the need for rapid access to specialists with experience in diagnosing optic nerve disorders. Indeed, the high prevalence of primary benign headaches and obesity in young women often leads to costly and invasive evaluations for presumed IIH.
| S-EPMC4776085 | biostudies-literature
Project description:Idiopathic intracranial hypertension (IIH) is a condition of unknown etiology often encountered in neurologic practice. It produces nonlocalizing symptoms and signs of raised intracranial pressure and, when left untreated, can result in severe irreversible visual loss. It most commonly occurs in obese women of childbearing age, but it can also occur in children, men, nonobese adults, and older adults. Although it is frequently associated with obesity, it can be associated with other conditions, such as obstructive sleep apnea and transverse cerebral venous sinus stenoses. Recent identification of subgroups at high risk for irreversible visual loss, including black patients, men, and patients with fulminant forms of IIH, help guide the optimal management and follow-up. Ongoing studies of venous anatomy and physiology in IIH patients, as well as a recently begun randomized clinical treatment trial, should provide further insight into this common yet poorly understood syndrome.
| S-EPMC3674489 | biostudies-other
Project description:PurposeWe described 3 types of folds in the retina and a crease in the outer retina associated with papilledema owing to idiopathic intracranial hypertension (IIH) at presentation. We report the change in folds relative to treatment of IIH over the 6 months.MethodsIn this substudy of a randomized clinical trial, study eyes of subjects assigned to acetazolamide (ACZ, n = 44) or placebo (PLB, n = 43) had spectral-domain optical coherence tomography (SDOCT) images of the optic disc and macula regions at baseline and at 3 and 6 months. Images were evaluated for peripapillary wrinkles (PPW), retinal folds (RF), choroidal folds (CF), and creases using transaxial and en face views. The optic nerve head (ONH) shape, retinal nerve fiber layer (RNFL) thickness, ONH volume, and papilledema grade were measured. Outcome was determination of the presence or absence of PPW, RF, CF, and creases.ResultsAt presentation, except for an increase of PPW in ACZ eyes (64% vs 28%), both treatment groups were matched for all OCT features. At 6 months, ACZ-treated, but not PLB-treated, eyes had fewer folds of all types (P < .01), with a 57% reduction in frequency of RF. Creases did not resolve. Resolution of RF, but not of PPW and CF, was associated with significant reduction in RNFL thickness, ONH volume, and papilledema grade.ConclusionsThe various types of retinal folds associated with papilledema reflect biodynamic processes and show an ACZ treatment effect. Persistence of these folds despite marked improvement in ONH swelling suggests permanent changes in the affected retinal tissues.
| S-EPMC5376523 | biostudies-literature
Project description:There is increasing interest in venous sinus stenting in patients with idiopathic intracranial hypertension who are refractory to medical therapy. Often the transverse sinus stenoses are bilateral, however, and there is no clear evidence for whether we should stent one or both sides in these patients. Our practice is to first stent one side, and in this brief case report, we demonstrate complete resolution of the contralateral stenosis in one such patient who underwent stenting. Her symptoms also completely resolved, and so this case highlights the dynamic fluctuant nature of the transverse sinuses.
| S-EPMC6998005 | biostudies-literature