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Purpose To describe a case of AA amyloidosis which produced an orbital inflammatory response with a novel presentation. Methods Case report. Results A 24 year-old Caucasian female with a history of intravenous (IV) heroin use was hospitalized for tricuspid valve endocarditis and methicillin resistant Staphylococcus aureus bacteremia, as well as acute renal failure. She received hemodialysis and IV daptomycin and had negative blood cultures for 3 weeks, when she developed sudden bilateral orbital swelling and blurred vision. Visual acuity was 20/200 in the right eye (OD) and 20/400 in the left eye (OS). Examination revealed proptosis, conjunctival chemosis and desiccation, optic disc swelling, creamy choroidal infiltrates and inferiorly located exudative retinal detachments in both eyes (OU). Multimodal imaging demonstrated thickening of the sclera, choroid and choriocapillaris as well as outer retinal disruption, subretinal fluid and deposits of hyperfluorescent debris within the choriocapillaris, outer retina and vitreous. Oral prednisone at 60 mg per day resolved the choroidal infiltrates and exudative detachments. Persistent nephrotic syndrome called for a renal biopsy, which demonstrated AA amyloidosis. Conclusion - Orbital and choroidal AA amyloidosis can induce a local inflammatory response manifesting as orbital swelling, papillitis, posterior scleritis, choroiditis and exudative retinal detachment, which responds to steroid therapy. The underlying pathology is likely a reactive inflammation and vaso-occlusive process involving the choriocapillaris and orbital vasculature to the presence of amyloid fibrils.

Purpose To investigate the clinical and anatomic characteristics of soccer ball-induced posterior segment injuries in the era of modern multi-modal imaging. Methods Retrospective case series of patients with soccer ball injury and diagnostic imaging from 2007 to 2020 at a single vitreoretinal practice. Results Eight patients met inclusion criteria. Fundus photographs (FP) and optical coherence tomography (OCT) were obtained in eight patients, fundus autofluorescence (FAF) in five patients, fluorescein angiography (FA) in three patients, and en-face OCT and OCT-Angiography (OCT-A) were obtained in two patients each. FA and FAF identified traumatic pigment epitheliopathy secondary to commotio. Increased hypo-autofluorescence was associated with shallow, peripheral retinal detachment on FAF. OCT of the macula displayed outer retinal changes associated with commotio, and offered insight into the acute and subacute changes of traumatic macular hole formation. A patient displayed foveal hyper-reflectivity in the shape of an hourglass with retinal cyst at the level of the external limiting membrane (ELM) as seen on OCT and En-face OCT. A patient with commotio involving the macula lacked microvascular changes on OCT-A. Conclusion OCT, FA, and FAF imaging may aid in the work-up and management of the soccer ball-related posterior segment injuries.

Historically, CRX mutations have been associated with cone-rod dystrophy, cone dystrophy, Leber’s congenital amaurosis, and retinitis pigmentosa. There is recent emerging evidence of an adult-onset...

We report a case of a 51-year-old Caucasian female who presented with a ciliary body melanoma of the right eye leading to focal resorption of the crystalline lens and inducing posterior subcapsular cataract. She underwent successful enucleation, and histopathology demonstrated a ciliary body melanoma with a predominance of epithelioid cells and focal scleral extension. Genetic testing revealed a heterozygous, pathogenic mutation of BAP1 (c.1717delC, p.Leu573fs). Crystalline lens resorption is a rare but potentially important finding in ciliary body melanoma, as early detection of malignancy can be lifesaving.

PURPOSE To describe a case of non-syndromic retinitis pigmentosa (RP) caused by presumed compound heterozygous A615T and T522M mutations in HGSNAT, characterized by bilateral cystoid macular edema (CME) and retinal neovascularization (NV). METHODS Case report. The patient underwent clinical evaluation, multimodal imaging and Next Generation panel sequencing. In silico analysis was performed with PolyPhen-2, SIFT and Mutation Taster. Segregation analysis was not available. RESULTS A 35 year-old hypertensive man presented with nyctalopia, photopsia, and difficulty reading for six months. He had no family history of visual deficits. Best-corrected visual acuity (BCVA) was 20/25 in the right eye (OD) and 20/20 in the left eye (OS). Examination revealed mid-peripheral bone spicules and macular NV in both eyes (OU). Multimodal imaging demonstrated CME, ellipsoid band loss outside the central macula, and leakage from the NV in both eyes. Sequencing detected four mutations in three genes, including two heterozygous mutations in HGSNAT (c.1843G>A, p.A615T and c.1565C>T, p.T522M). A615T is a pathogenic, hypomorphic mutation. T522M has not been previously phenotypically described. It is predicted damaging by in silico analysis and occurs at a conserved position near the eighth transmembrane domain, adjacent to residues in which missense mutations result in protein misfolding. CONCLUSION This is, to our knowledge, the first reported case of retinal NV in a case of non-syndromic RP due to HGSNAT mutation. The T522M variant likely functions as a severe mutation alongside the hypomorphic A615T mutation. These findings expand the genotypic and phenotypic spectrum of non-syndromic RP.

Purpose To discuss the mechanism of injury and characterize the clinical features of ocular trauma associated with elastic cord exercise equipment band injuries in a consecutive series of patients seen at a single vitreoretinal surgery practice. Methods We performed a retrospective review of all patients who were treated for blunt trauma from 2013 to 2020 at a single vitreoretinal practice. Results Thirteen eyes from 11 patients met the inclusion criteria of possessing ocular trauma secondary to recoil from exercise bands. Presenting visual acuity ranged from 20/16 to HM (median: 20/32). The most frequently observed anterior segment pathologies were traumatic iritis (54%) and angle recession (31%). The most common posterior segment findings were vitreous hemorrhage (54%) and peripheral commotio retinae (54%). Three eyes (23%) required surgical intervention. Follow up intervals ranged from 0 to 10 months (median: 1.75 months). Visual acuity at last examination ranged from 20/13 to 20/400 (median: 20/40). Conclusion A wide spectrum of serious ocular injuries requiring medical and surgical intervention can result from this form of blunt ocular trauma. The frequency of this event would be decreased by the use of sports goggles and careful inspection of equipment for wear and over use.

A man developed vision loss and bilateral subhyaloid, outer plexiform, and subretinal hemorrhages after 2 minutes of chest compressions. Several potential mechanisms, including venous transmission of pressure and elevated intracranial pressure (ICP), could explain these findings.

An 18-year-old man of Filipino ancestry presented with firm swelling of his left upper eyelid for 3 years (Figure 1A). He had a history of nephrotic syndrome as a toddler. MRI revealed a mass of th...

International audience; Aspergillus fumigatus is an important cause of pulmonary and systemic infections in immune compromised individuals, and of corneal ulcers and blindness in immune competent patients. To examine the role of chitin synthases in Aspergillus corneal infection, we analyzed Aspergillus mutants of chitin synthase family 1 and family 2, and found that compared with the parent strain, the quadruple mutants from both families were more readily killed by neutrophils in vitro, and that both also exhibited impaired hyphal growth in the cornea. Further, inhibition of chitin synthases using Nikkomycin Z enhanced neutrophil killing in vitro and in vivo in a murine model of A. fumigatus corneal infection. Acidic mammalian chitinase (AMCase) is mostly produced by macrophages in asthmatic lungs; however, we now demonstrate that neutrophils are a major source of AMCase, which inhibits hyphal growth. In A. fumigatus corneal infection, neutrophils are the major source of AMCase, and addition of AMCase inhibitors or adoptive transfer of neutrophils from AMCase −/− mice resulted in impaired hyphal killing. Together, these findings identify chitin synthases as important fungal virulence factors and neutrophil-derived AMCase as an essential mediator of host defense.

A 49 year-old man presented with a several-day history of right upper eyelid swelling and purulent discharge. He had a history of inhalational heroin use. Examination noted intact visual acuity, pr...

Background Cancer-associated retinopathy (CAR) is associated with various malignancies, including small cell lung cancer (SCLC). It is difficult to recognize, but prompt diagnosis is crucial for the patient, as retinopathy may be a herald sign that precedes systemic manifestations by months, thus allowing early treatment of the underlying malignancy. Case presentation We present a rare case of CAR with chorioretinitis and optic neuritis in a patient with occult SCLC. The patient presented with rapidly progressive peripheral field loss and photopsias with “prism-like” visual disturbances. Her symptoms stabilized with intravenous methylprednisolone, and her cancer was treated with carboplatin, etoposide and radiotherapy. Conclusions This is the first reported case of SCLC-associated CAR to present with chorioretinitis. CAR can be a herald feature of SCLC, and early recognition of the disease should prompt a systemic evaluation for an occult malignancy, which may be critical for patient survival. Further understanding of CAR pathogenesis may offer potential avenues for treatment.

Recently developed anti-tumour therapies targeting immune checkpoints include tremelimumab and durvalumab. These agents have incompletely characterised side effect profiles. The authors report a 68-year-old man treated for non-small cell lung cancer (NSCLC) with a combination of tremelimumab and durvalumab. After treatment he developed diplopia, ptosis, fatigue, weakness, and an inflammatory myopathy affecting the extraocular muscles requiring hospitalisation. Electromyography (EMG) testing and muscle biopsy suggested inflammatory myopathy without sign of myasthenia. Within 1 month of withdrawal of cancer therapies and initiation of oral steroid therapy, ocular and systemic symptoms had resolved. This notable adverse effect has not been previously described for these drugs administered singly or in combination, and ophthalmologists should be aware of this presentation in patients treated with these agents.

Most microbes have not been cultured, and many of those that are cultivatable are difficult, dangerous or expensive to propagate or are genetically intractable. Routine cloning of large genome fractions or whole genomes from these organisms would significantly enhance their discovery and genetic and functional characterization. Here we report the cloning of whole bacterial genomes in the yeast Saccharomyces cerevisiae as single-DNA molecules. We cloned the genomes of Mycoplasma genitalium (0.6 Mb), M. pneumoniae (0.8 Mb) and M. mycoides subspecies capri (1.1 Mb) as yeast circular centromeric plasmids. These genomes appear to be stably maintained in a host that has efficient, well-established methods for DNA manipulation.