A novel de novo heterozygous pathogenic variant in the SDHA gene results in childhood onset bilateral optic atrophy and cognitive impairment.
Sign Up to like & getrecommendations! Published in 2021 at "Metabolic brain disease"
DOI: 10.1007/s11011-021-00671-1
Abstract: Isolated defects in the mitochondrial respiratory chain complex II (CII; succinate-ubiquinone oxidoreductase) are extremely rare and mainly result from bi-allelic mutations in one of the nuclear encoded subunits: SDHA, SDHB and SDHD, which comprise CII… read more here.
Keywords: bilateral optic; childhood onset; optic atrophy; sdha gene ... See more keywords
Bilateral optic nerve and retinal infiltration as an initial site of relapse in a child with T-cell acute lymphoblastic leukemia
Sign Up to like & getrecommendations! Published in 2020 at "American Journal of Ophthalmology Case Reports"
DOI: 10.1016/j.ajoc.2020.100695
Abstract: Purpose To describe a case of leukemic infiltration of bilateral optic nerves and retina as a site of relapse in a child with T-Cell Acute Lymphoblastic Leukemia (ALL). Observations We report a 7 year old… read more here.
Keywords: bilateral optic; infiltration; site relapse; optic nerve ... See more keywords
Uveomeningeal syndrome presenting with bilateral optic disc edema and multiple evanescent white dots syndrome (MEWDS)
Sign Up to like & getrecommendations! Published in 2022 at "American Journal of Ophthalmology Case Reports"
DOI: 10.1016/j.ajoc.2022.101538
Abstract: Purpose To report a uveomeningeal syndrome with bilateral optic disc edema and a MEWDS-like presentation. Observations A 17-year-old female experienced daily fevers for 3 days (ranging from 101.4 F to 102 F), then received the… read more here.
Keywords: uveomeningeal syndrome; bilateral optic; optic disc; disc edema ... See more keywords
Bilateral Optic Disc Edema as an Initial Presentation of Acute Retinal Necrosis.
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DOI: 10.1080/09273948.2022.2124427
Abstract: PURPOSE We reported a case of acute retinal necrosis (ARN) that presented as isolated bilateral optic disc edema. METHODS A case report. CASE A 68-year-old male with a 3-day history of progressive blurred vision presented… read more here.
Keywords: bilateral optic; disc edema; retinal necrosis; optic disc ... See more keywords
Headache and Bilateral Optic Disc Edema as the Initial Manifestation of Vogt-Koyanagi-Harada Disease.
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Neuro-Ophthalmology"
DOI: 10.1097/wno.0000000000000917
Abstract: A 31-year-old healthy Asian man presented with new headaches and blurred vision. He was found to have bilateral optic disc edema (ODE) and peripapillary subretinal fluid and was initially investigated for causes of raised intracranial… read more here.
Keywords: ophthalmology; bilateral optic; optic disc; disease ... See more keywords
Giant Cell Arteritis Presenting as Bilateral Optic Perineuritis in an African Man.
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Neuro-Ophthalmology"
DOI: 10.1097/wno.0000000000000951
Abstract: O ptic perineuritis denotes inflammation of the optic nerve sheath with sparing of axons and is usually associated with infectious and inflammatory etiologies. We present a rare case of biopsy-proven giant cell arteritis (GCA) causing… read more here.
Keywords: cell arteritis; optic nerve; giant cell; perineuritis ... See more keywords
Incidental bilateral optic nerve hypoplasia
Sign Up to like & getrecommendations! Published in 2017 at "BMJ Case Reports"
DOI: 10.1136/bcr-2017-220343
Abstract: A 19-year-old man was incidentally noted to have a bitemporal heteronymous hemianopia on automated perimetry during his first optician’s sight test (figure 1). The patient reported life-long reduced vision in the right eye although this… read more here.
Keywords: bilateral optic; figure; nerve hypoplasia; incidental bilateral ... See more keywords
Neurosyphilis presenting as visually asymptomatic bilateral optic perineuritis
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DOI: 10.1136/bcr-2019-232520
Abstract: A 39-year-old Caucasian man presented with headaches and retro-orbital pain but normal vision. Bilateral optic nerve swelling was found on funduscopy though optic nerve function and computed perimetry were normal and there was no relative… read more here.
Keywords: bilateral optic; presenting visually; optic nerve; neurosyphilis presenting ... See more keywords
Bilateral optic disc swelling resulting from lymphocytic meningitis and posterior uveitis secondary to syphilis
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DOI: 10.1136/bcr-2020-239813
Abstract: Idiopathic intracranial hypertension (IIH) is being diagnosed more often in the UK due to the rise in obesity. In fact, patients who present with bilateral optic disc swelling are habitually put on the papilloedema pathway,… read more here.
Keywords: bilateral optic; lymphocytic meningitis; optic disc; secondary syphilis ... See more keywords
Bilateral optic disc edema as a possible complication of cabozantinib use–a case report
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DOI: 10.1177/11206721221078675
Abstract: Introduction Cabozantinib, which was approved by the Food and Drug Administration (FDA) in 2012, is a tyrosine kinase inhibitor widely used in the treatment of metastatic renal cell carcinoma (RCC) and medullary thyroid carcinoma. To… read more here.
Keywords: bilateral optic; disc edema; cabozantinib; optic disc ... See more keywords
Pearls & Oy-sters: Sequential Bilateral Hearing and Vision Loss With Optic Disc Swelling Due to Sphenoid Bone Craniofacial Fibrous Dysplasia
Sign Up to like & getrecommendations! Published in 2022 at "Neurology"
DOI: 10.1212/wnl.0000000000201663
Abstract: Bilateral optic disc swelling is a common finding but rarely associated with multiple cranial neuropathies. In this case, an 18-year-old man presented with subacute sequential hearing loss followed by subacute sequential visual loss. Clinical examination… read more here.
Keywords: pearls sters; loss; disc swelling; optic disc ... See more keywords