Roth spots in a Rendu-Osler-Weber syndrome.

PURPOSE: To describe the molecular diagnosis and atypical ocular presentation of a patient who suffered for a Rendu-Osler-Weber syndrome associated with juvenile polyposis (JP) syndrome. METHODS: This is a case report of a patient that underwent fundus examen, brain Magnetic Resonance Imaging (MRI) and arteriography. Genetic testing was performed by next-generation-sequencing (NGS). RESULTS: A 35-year-old woman presented with right hemiplegia with right homonymous lateral hemianopia and homolateral complete sensory deficit. She also had Roth spots in her left fundus. Genetic testing revealed a pathogenic variation in the heterozygous state in the SMAD-4 gene (c.1245_1248del). CONCLUSION: Hereditary Hemorrhagic Telangiectasia (HTT) also known as Rendu-Osler-Weber syndrome is a rare autosomal dominant disease which reveals mostly with epistaxis and cutaneous telangiectasias. Our clinical case reports Roth spots in the context of HTT associated with juvenile polyposis syndrome. SMAD-4 mutation may explain the presence of a carotid-ophthalmic aneurysm which is not a lesion usually found in HTT.

First use of a new rapid multiplex PCR system for the microbiological diagnosis and the clinical management of severe infectious keratitis: A case report.

Purpose: We report the use of a rapid multiplex polymerase chain reaction (PCR) system in the microbiological diagnosis and the therapeutic management of a severe bacterial keratitis case. Observations: During the management of a severe bacterial keratitis case, standard microbiological diagnostic methods were performed. At the same time, an additional ocular swab sampling from the cornea was performed and analyzed using two rapid multiplex PCR assays allowing the simultaneous detection of 29 different virus, yeast and bacteria genomes. Using combination of two rapid multiplex PCR systems, the microbiological diagnosis of a severe Pseudomonas aeruginosa induced keratitis was performed within 90 minutes after an ocular sampling. A rapid subsequent adaptation of local antibiotic treatment was performed allowing to the young patient to regain 6 months after her hospital admission a final visual acuity of 20/20 in her right eye. Conclusions and importance: The present case report suggests that the use of a rapid multiplex PCR strategy may result in a decrease of the mean hospital stage duration for severe infectious keratitis and in an improvement of the clinical outcome of severe keratitis infections. Nevertheless, additional prospective studies are needed to evaluate whether this innovative strategy may replace the current standard approach and optimize the therapeutic management of severe corneal infections.

Comparative Evaluation of Two SD-OCT Macular Parameters (GCC, GCL) and RNFL in Chiasmal Compression.

Purpose: To evaluate the relationship between different macular thickness parameters analyzed by SD-OCT and the central visual field (VF) evaluated with automated kinetic perimetry in a cohort of patients with pituitary tumors. Methods: Data from patients with pituitary adenoma treated at Reims University Hospital between October 1st, 2017, and May 31st, 2018 were collected. All patients underwent an automated kinetic perimetry and a SD-OCT to map the ganglion cell complex (GCC), the ganglion cell layer (GCL) thickness and the retinal nerve fiber layer (RNFL) using devices from two different manufacturers. Univariate and multivariate analysis were used to evaluate the correlation between the area of central VF in square degrees (deg2) and the SD-OCT parameters (µm). Results: Eighty-eight eyes were included in the analysis. All the thickness parameters measured in SD-OCT decreased with the visual field alteration. The best correlation was observed between superior thickness parameters (GCC, GCL) and the inferior central visual field. The most pertinent predictive factors for visual field loss were the inferior central GCL and the nasal RNFL (both AUC=0.775) with a sensitivity respectively of 86% and 70%. Conclusion: This study suggests that both GCC, GCL thickness parameters could be reliable predictors of central visual field impairment in patients with pituitary tumors. There was no significative difference between both devices.

Severe Primary Open-Angle Glaucoma and Agricultural Profession: A Retrospective Cohort Study.

While exposure to pesticides is a known risk factor for neurodegenerative brain diseases, little is known about the influence of environment on glaucoma neuropathy. We aimed to determine whether farmers are at higher risk of developing severe primary open-angle glaucoma (POAG). This retrospective cohort study (tertiary referral center, Reims University Hospital, France) included patients diagnosed with POAG in the last two years. Univariate analysis and adjusted multivariate logistic regression were performed to evaluate the association between agricultural profession and all recorded data. Glaucoma severity (primary outcome) and the number of patients who underwent filtering surgery (secondary outcome) were analyzed. In total, 2065 records were screened, and 772 patients were included (66 in the farmer group and 706 in the nonfarmer group). The risk of severe glaucoma was higher in the farmer group (adjusted odds ratio (aOR) 1.87, p = 0.03). More patients underwent filtering surgery in the farmer group in univariate analysis (p = 0.02) but with no statistical significance after adjustment (p = 0.08). These results suggest pesticide exposure may be a factor accelerating the neurodegeneration in POAG, although a direct link between the agricultural profession and the disease requires further extended studies to be demonstrated.