FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W4385583399> ?p ?o ?g. }

• W4385583399 abstract "Idiopathic intracranial hypertension (IIH) is a diagnosis of exclusion defined by increased intracranial pressure (ICP) in the setting of normal cerebrospinal fluid (CSF) composition and no detectable cause on neuroimaging. Typically seen in obese women of childbearing age, this condition can lead to severe papilledema and visual impairment—hence the need for early diagnosis.1Rigi M Almarzouqi SJ Morgan ML Lee AG Papilledema: epidemiology, etiology, and clinical management.Eye Brain. 2015; 7: 47-57PubMed Google Scholar Leber's hereditary optic neuropathy (LHON) is a mitochondrial disorder of maternal inheritance leading to progressive degeneration of retinal ganglion cells. It most often presents in childhood or early adulthood with bilateral, painless, subacute central visual loss, which is irreversible in most cases. Certain environmental factors have been described as potential triggers for this genetic condition, but the exact causative mechanisms have yet to be fully understood.2Yu-Wai-Man P Chinnery PF et al.Leber hereditary optic neuropathy.in: Adam MP Everman DB Mirzaa GM GeneReviews [Internet]. University of Washington, Seattle, Seattle (WA)1993https://www.ncbi.nlm.nih.gov/books/NBK1174/Google Scholar We present a confirmed case of LHON conversion occurring in the setting of papilledema secondary to IIH. A 21-year-old white female presented to her local emergency department with a 1-week history of severe headaches, blurred vision, transient visual obscurations, binocular horizontal diplopia, nausea, and vomiting. Past medical history revealed a 10-year history of refractory migraines and a recent 30-pound weight gain following the initiation of new analgesics. On examination, the patient's best-corrected visual acuity was 20/30 in both eyes. Pupils, colour vision, and anterior-segment examination were within normal limits. Funduscopy showed marked papilledema (Frisen grade 4) with chorioretinal folds in both eyes. Her blood pressure was normal. Cranial computed tomography scan with venous phase computed tomography angiography reported no identifiable cause of increased ICP. Lumbar puncture confirmed an elevated opening pressure of 40 cm H2O; CSF biochemical analysis was normal. A diagnosis of IIH was established, and the patient was started on a gradually increased dosage of oral acetazolamide (from 250 mg qid to 1 g qid), with later addition of oral topiramate and furosemide. Within 4 months, the patient's visual acuity progressively deteriorated to 20/400 in both eyes despite maximal oral medical therapy (acetazolamide 1 g qid, topiramate 50 mg die, furosemide 20 mg bid), prompting referral to our tertiary ophthalmology centre for neuro-ophthalmology consultation. Optical coherence tomography demonstrated persistent papilledema (Fig. 1). Opening pressure remained elevated (36 cm H2O) on repeat lumbar puncture. Cerebral magnetic resonance imaging with venographic sequences revealed severe bilateral transverse sinus stenosis, and the patient underwent venous sinus stenting. Although the papilledema subsequently improved, best-corrected visual acuity remained poor (20/400 OD and counting fingers OS). Postoperative visual field (OCTOPUS Perimetry, Haag-Streit USA, Mason, Ohio) was characterized by dense cecocentral scotomas OU (Fig. 2). Further investigations were conducted: complete blood count, sedimentation rate, serum lysozyme, angiotensin-converting enzyme, and vitamin B1, B6, and B12 levels were within normal limits, and Bartonella henselae serology, myelin oligodendrocyte glycoprotein IgG, anti-aquaporin 4 IgG, and syphilis enzyme immunoassay were negative. Molecular genetic testing revealed a pathogenic m.11778G>A variant in the MT-ND4 gene, pathognomonic for LHON.Fig. 2OCTOPUS Perimetry (Haag-Streit USA, Mason, Ohio) showing dense cecocentral scotomas in both eyes in a patient with concomitant Leber's hereditary optic neuropathy and idiopathic intracranial hypertension.View Large Image Figure ViewerDownload Hi-res image Download (PPT) Studies have shown that increased ICP in IIH leads to a rise in CSF pressure within the optic nerve sheath, generating an axoplasmic flow stasis. Nerve fibre and optic disc swelling occur, resulting in disruption of the vascular supply and ultimately intraneuronal ischemia and optic atrophy. In the acute setting, papilledema causes an enlargement of the blind spot on visual field testing. This is often the only visual field defect; therefore, cecocentral scotomas would be highly unusual in IIH, especially after reducing ICP and improving papilledema.1Rigi M Almarzouqi SJ Morgan ML Lee AG Papilledema: epidemiology, etiology, and clinical management.Eye Brain. 2015; 7: 47-57PubMed Google Scholar Regarding LHON, 3 pathogenic variants account for approximately 90% of cases2: m.11778G>A in gene MT-ND4, m.14484T>C in gene MT-ND6, and m.3460G>A in gene MT-ND1. Of these, m.11778G>A is the most prevalent in northern Europe and is the one identified in our case, although m.14484T>C is the most common in Quebec due to the founder effect.2Yu-Wai-Man P Chinnery PF et al.Leber hereditary optic neuropathy.in: Adam MP Everman DB Mirzaa GM GeneReviews [Internet]. University of Washington, Seattle, Seattle (WA)1993https://www.ncbi.nlm.nih.gov/books/NBK1174/Google Scholar All 3 LHON mutations have incomplete penetrance and may cause vision loss in both males and females, with a male predominance among affected families. Vision loss usually presents in the second or third decade of life. The clinical picture typically consists of unilateral subacute visual loss (often worse than 20/200) with involvement of the fellow eye weeks to months later or simultaneously in a minority of cases.2Yu-Wai-Man P Chinnery PF et al.Leber hereditary optic neuropathy.in: Adam MP Everman DB Mirzaa GM GeneReviews [Internet]. University of Washington, Seattle, Seattle (WA)1993https://www.ncbi.nlm.nih.gov/books/NBK1174/Google Scholar Especially in the acute setting, LHON patients can present with several funduscopic anomalies, including “disk hyperemia, edema of the peripapillary retinal nerve fiber layer, retinal telangiectasia, and increased vascular tortuosity.”2Yu-Wai-Man P Chinnery PF et al.Leber hereditary optic neuropathy.in: Adam MP Everman DB Mirzaa GM GeneReviews [Internet]. University of Washington, Seattle, Seattle (WA)1993https://www.ncbi.nlm.nih.gov/books/NBK1174/Google Scholar However, fundus examination may be normal initially, which may result in diagnostic delays. Visual field defects are typically central or cecocentral. Prognosis is poor for most LHON patients, with the m.11778G>A mutation carrying the worst visual prognosis according to published data (14% reported visual recovery rate).2Yu-Wai-Man P Chinnery PF et al.Leber hereditary optic neuropathy.in: Adam MP Everman DB Mirzaa GM GeneReviews [Internet]. University of Washington, Seattle, Seattle (WA)1993https://www.ncbi.nlm.nih.gov/books/NBK1174/Google Scholar Although coincidence could explain LHON onset in the setting of papilledema or IIH, more than 1 such case has been reported in the recent literature. Indeed, Cunha et al.3Cunha AM Vilares-Morgado R Moleiro AF Falcao-Reis F Faria O Childhood-onset Leber hereditary optic neuropathy: particular features.Int Med Case Rep J. 2021; 14: 163-169Crossref PubMed Scopus (1) Google Scholar and Myrgorodska4Myrgorodska O Coincidence of idiopathic intracranial hypertension and Leber hereditary optic neuropathy: a case report.Cesk Slov Oftalmol. 2022; 78: 197-204PubMed Google Scholar each reported a similar clinical course in pediatric patients. Similar to the case presented here, the treatment of IIH did not result in vision improvement, thus instigating genetic testing, which led to a diagnosis of LHON. Furthermore, Araya et al.5Araya J Araya C Conrads T Sadun A Seleme N Leber hereditary optic neuropathy conversion in a patient with idiopathic intracranial hypertension.J Neuroophthalmol. 2022 Dec 6; (ePub ahead of print)https://doi.org/10.1097/WNO.0000000000001572Crossref PubMed Google Scholar described the case of a 25-year-old female with a family history of LHON who developed central scotomas and markedly decreased visual acuity 6 weeks after a diagnosis of IIH; a diagnosis of conversion to LHON was presumed given the positive family history. The patient's visual acuity did not recover on follow-up.5Araya J Araya C Conrads T Sadun A Seleme N Leber hereditary optic neuropathy conversion in a patient with idiopathic intracranial hypertension.J Neuroophthalmol. 2022 Dec 6; (ePub ahead of print)https://doi.org/10.1097/WNO.0000000000001572Crossref PubMed Google Scholar The presence of a LHON mutation does not necessarily lead to the development of symptomatic disease. This process of conversion to the affected state seems to require a trigger or multiple triggers that increase metabolic stress and the production of reactive oxygen species.5Araya J Araya C Conrads T Sadun A Seleme N Leber hereditary optic neuropathy conversion in a patient with idiopathic intracranial hypertension.J Neuroophthalmol. 2022 Dec 6; (ePub ahead of print)https://doi.org/10.1097/WNO.0000000000001572Crossref PubMed Google Scholar Environmental factors “such as head trauma, industrial toxins, and drugs with mitochondrial toxic effects”2Yu-Wai-Man P Chinnery PF et al.Leber hereditary optic neuropathy.in: Adam MP Everman DB Mirzaa GM GeneReviews [Internet]. University of Washington, Seattle, Seattle (WA)1993https://www.ncbi.nlm.nih.gov/books/NBK1174/Google Scholar have been hypothesized as potential triggers of LHON. Smoking and alcohol, for instance, have been associated with conversion to symptomatic LHON.2Yu-Wai-Man P Chinnery PF et al.Leber hereditary optic neuropathy.in: Adam MP Everman DB Mirzaa GM GeneReviews [Internet]. University of Washington, Seattle, Seattle (WA)1993https://www.ncbi.nlm.nih.gov/books/NBK1174/Google Scholar,5Araya J Araya C Conrads T Sadun A Seleme N Leber hereditary optic neuropathy conversion in a patient with idiopathic intracranial hypertension.J Neuroophthalmol. 2022 Dec 6; (ePub ahead of print)https://doi.org/10.1097/WNO.0000000000001572Crossref PubMed Google Scholar Recent data and this report, in addition to our understanding of the role of environmental triggers for LHON conversion, seem to suggest that papilledema or IIH may contribute to the development of symptomatic LHON in mutation carriers. This process may be caused by a cumulative effect on oxidative stress and retinal ganglion cell degeneration. Further reports are necessary to gain a better understanding of this phenomenon. IIH is a diagnosis of exclusion and may coexist with other causes of optic neuropathy. Atypical cases should prompt further investigations, especially in the setting of central or cecocentral scotomas, where LHON conversion must be suspected in the differential diagnosis. The authors have no proprietary or commercial interest in any materials discussed in this article." @default.
• W4385583399 created "2023-08-05" @default.
• W4385583399 creator A5017574669 @default.
• W4385583399 creator A5025739906 @default.
• W4385583399 creator A5061089292 @default.
• W4385583399 creator A5061843065 @default.
• W4385583399 date "2023-08-01" @default.
• W4385583399 modified "2023-10-02" @default.
• W4385583399 title "Leber's hereditary optic neuropathy associated with idiopathic intracranial hypertension" @default.
• W4385583399 cites W3133666010 @default.
• W4385583399 cites W4318933522 @default.
• W4385583399 doi "https://doi.org/10.1016/j.jcjo.2023.07.017" @default.
• W4385583399 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/37545049" @default.
• W4385583399 hasPublicationYear "2023" @default.
• W4385583399 type Work @default.
• W4385583399 citedByCount "0" @default.
• W4385583399 crossrefType "journal-article" @default.
• W4385583399 hasAuthorship W4385583399A5017574669 @default.
• W4385583399 hasAuthorship W4385583399A5025739906 @default.
• W4385583399 hasAuthorship W4385583399A5061089292 @default.
• W4385583399 hasAuthorship W4385583399A5061843065 @default.
• W4385583399 hasBestOaLocation W43855833991 @default.
• W4385583399 hasConcept C118487528 @default.
• W4385583399 hasConcept C2777056713 @default.
• W4385583399 hasConcept C2778233873 @default.
• W4385583399 hasConcept C2780837183 @default.
• W4385583399 hasConcept C71924100 @default.
• W4385583399 hasConceptScore W4385583399C118487528 @default.
• W4385583399 hasConceptScore W4385583399C2777056713 @default.
• W4385583399 hasConceptScore W4385583399C2778233873 @default.
• W4385583399 hasConceptScore W4385583399C2780837183 @default.
• W4385583399 hasConceptScore W4385583399C71924100 @default.
• W4385583399 hasLocation W43855833991 @default.
• W4385583399 hasLocation W43855833992 @default.
• W4385583399 hasOpenAccess W4385583399 @default.
• W4385583399 hasPrimaryLocation W43855833991 @default.
• W4385583399 hasRelatedWork W1971786882 @default.
• W4385583399 hasRelatedWork W1973353477 @default.
• W4385583399 hasRelatedWork W2120759847 @default.
• W4385583399 hasRelatedWork W2467255425 @default.
• W4385583399 hasRelatedWork W2619641465 @default.
• W4385583399 hasRelatedWork W2906660163 @default.
• W4385583399 hasRelatedWork W2992923701 @default.
• W4385583399 hasRelatedWork W3176133009 @default.
• W4385583399 hasRelatedWork W3181922889 @default.
• W4385583399 hasRelatedWork W4306152271 @default.
• W4385583399 isParatext "false" @default.
• W4385583399 isRetracted "false" @default.
• W4385583399 workType "article" @default.