Purpose: To describe a case series of ocular complications associated with upper respiratory tract infections.
Methods: Four patients aged 21–61 years (three females, one male) had confirmed ocular complications connected with a general upper respiratory tract infection with myalgia and fever. Ophthalmological examination, including a visual acuity test, a slit-lamp exam, intraocular pressure measurements, fluorescein and indocyanine green angiography, optical coherence tomography (OCT), and diagnostic tests for influenza were performed in the patients (RT-PCR, HAI).
Results: Acute posterior multifocal placoid pigment epitheliopathy (APMPPE) was diagnosed in three patients and serous macular detachment (SME) in one. Influenza virus infection was confirmed by molecular biological methods (RT-PCR) or the hemagglutination inhibition test (HAI) in two patients. All patients were treated with systemic prednisone.
Conclusion: A coincidence between APMPPE and SME epitheliopathy and influenza virus infection was observed in different months of a given epidemic season. 相似文献
Purpose: To clinically and genetically characterise a second family with dominant ARL3-related retinitis pigmentosa due to a specific ARL3 missense variant, p.(Tyr90Cys).Methods: Clinical examination included optical coherence tomography, electroretinography, and ultra-wide field retinal imaging with autofluorescence. Retrospective data were collected from the registry of inherited retinal diseases at Oslo university hospital. DNA was analysed by whole-exome sequencing and Sanger sequencing. The ARL3 missense variant was visualized in a 3D-protein structure.Results: The phenotype was non-syndromic retinitis pigmentosa with cataract associated with early onset of decreased central vision and central retinal thinning. Sanger sequencing confirmed the presence of a de novo ARL3 missense variant p.(Tyr90Cys) in the index patient and his affected son. We did not find any other cases with rare ARL3 variants in a cohort of 431 patients with retinitis pigmentosa-like disease. By visualizing Tyr90 in the 3D protein structure, it seems to play an important role in packing of the α/β structure of ADP-ribosylation factor-like 3 (ARL3). When changing Tyr90 to cysteine, we observe a loss of interactions in the core of the α/β structure that is likely to affect folding and stability of ARL3.Conclusion: Our study confirms that the ARL3 missense variant p.(Tyr90Cys) causes retinitis pigmentosa. In 2016, Strom et al. reported the exact same variant in a mother and two children with RP, labelled ?RP83 in the OMIM database. Now the questionmark can be removed, and ARL3 should be added to the list of genes that may cause non-syndromic dominant retinitis pigmentosa. 相似文献
BACKGROUNDSudden hearing loss (SHL) is associated with serious systematic conditions such as neoplasms, vascular events, autoimmune diseases, infections, and iatrogenic injury. Some authors report that SHL can be an early warning sign of impending vertebrobasilar ischemic stroke. It is important to distinguish stroke from benign disease. CASE SUMMARYA 48-year-old male patient presented with SHL and vertigo as first symptoms. Diffusion-weighted imaging revealed high signal intensity in the left posterior inferior cerebellar artery territory of the cerebellar hemisphere and high signal intensity in the right pons and bridge cerebellar arm, confirming that the patient had cerebral infarction. Treatment with antiplatelet drugs, steroid anti-inflammatory drugs, and neurotrophic nerve therapy promoted blood circulation and removed blood stasis, and the symptoms of the patient were significantly improved. CONCLUSIONSHL and vertigo could be the initial symptoms of vertebrobasilar ischemic stroke. 相似文献