Choroidal abnormalities in Neurofibromatosis type 1

A 28-year-old man (Patient 1) and a 31-year-old woman (Patient 2), were referred to the eye clinic after dermatological finding of six and eight café-au-lait macules over 15 mm in maximum diameter, respectively

Molecular insights and emerging strategies for treatment of metastatic uveal melanoma

Uveal melanoma (UM) is the most common intraocular cancer. In recent decades, major advances have been achieved in the diagnosis and prognosis of UM allowing for tailored treatments. However, nearly 50% of patients still develop metastatic disease with survival rates of less than 1 year. There is currently no standard of adjuvant and metastatic treatment in UM, and available therapies are ineffective resulting from cutaneous melanoma protocols. Advances and novel treatment options including liver-directed therapies, immunotherapy, and targeted-therapy have been investigated in UM-dedicated clinical trials on single compounds or combinational therapies, with promising results. Therapies aimed at prolonging or targeting metastatic tumor dormancy provided encouraging results in other cancers, and need to be explored in UM. In this review, the latest progress in the diagnosis, prognosis, and treatment of UM in adjuvant and metastatic settings are discussed. In addition, novel insights into tumor genetics, biology and immunology, and the mechanisms underlying metastatic dormancy are discussed. As evident from the numerous studies discussed in this review, the increasing knowledge of this disease and the promising results from testing of novel individualized therapies could offer future perspectives for translating in clinical use

Ocular manifestations in Gorlin-Goltz syndrome

Background: Gorlin-Goltz syndrome, also known as nevoid basal cell carcinoma syndrome, is a rare genetic disorder that is transmitted in an autosomal dominant manner with complete penetrance and variable expressivity. It is caused in 85% of the cases with a known etiology by pathogenic variants in the PTCH1 gene, and is characterized by a wide range of developmental abnormalities and a predisposition to multiple neoplasms. The manifestations are multiple and systemic and consist of basal cell carcinomas in various regions, odontogenic keratocistic tumors and skeletal anomalies, to name the most frequent. Despite the scarce medical literature on the topic, ocular involvement in this syndrome is frequent and at the level of various ocular structures. Our study focuses on the visual apparatus and its annexes in subjects with this syndrome, in order to better understand how this syndrome affects the ocular system, and to evaluate with greater accuracy and precision the nature of these manifestations in this group of patients. Results: Our study confirms the presence of the commonly cited ocular findings in the general literature regarding the syndrome [hypertelorism (45.5%), congenital cataract (18%), nystagmus (9%), colobomas (9%)] and highlights strabismus (63% of the patients), epiretinal membranes (36%) and myelinated optic nerve fiber layers (36%) as the most frequent ophthalmological findings in this group of patients. Conclusions: The presence of characteristic and frequent ocular signs in the Gorlin- Goltz syndrome could help with the diagnostic process in subjects suspected of having the syndrome who do not yet have a diagnosis. The ophthalmologist has a role as part of a multidisciplinary team in managing these patients. The ophthalmological follow-up that these patients require, can allow, if necessary, a timely therapy that could improve the visual prognosis of such patients

Malignant glaucoma following gonioscopy-assisted transluminal trabeculotomy: a case report

Background: To report a case of malignant glaucoma that developed after gonioscopy-assisted transluminal trabeculotomy (GATT). Case presentation: An 85-year-old male pseudophakic patient afected by pseudoexfoliative glaucoma (PEXG), unresponsive to medical glaucoma treatment, underwent uneventful GATT surgery. On the frst day after surgery, the eye showed a shallow central and peripheral anterior chamber (AC) with a raised intraocular pressure (IOP) measured at 55mmHg. Optical coherence tomography and ultrasound biomicroscopy confrmed the diagnosis of malignant glaucoma. Laser iridotomy, posterior capsulotomy and hyaloidotomy were performed, and the patient was treated with atropine sulphate 1%, maximum topical and systemic ocular hypotensive drugs with no improvement in the IOP. Subsequently, the patient underwent pars plana anterior vitrectomy, resulting in deepening of the AC with opening of the iridocorneal angle and decrease of the IOP. No further postoperative complications were recorded, and the IOP remained controlled 12months after surgery without antiglaucoma medications. Conclusions: Despite the minimally invasive profle of GATT, malignant glaucoma may develop after this procedure. Early recognition and prompt treatment are mandatory for preventing permanent visual loss

Iridocorneal endothelial syndrome in a patient with keratoconus. A case report

Background: To describe a case of a rare association of bilateral keratoconus and unilateral essential iris atrophy and to conduct a literature review of the current strategies of treatment of the corneal disease and glaucoma in patients with Iridocorneal Endothelial Syndrome (ICE). Case presentation: We report a rare association of bilateral keratoconus and unilateral essential iris atrophy in a 38-year-old man. Diagnosis of bilateral keratoconus was confirmed by corneal topography. Slit-lamp examination showed extensive iris atrophy with corectopia and policoria in one eye. Corneal specular microscopy revealed an abnormal endothelium morphology in the same eye with extensive peripheral anterior synechiae and closure of the drainage angle at gonioscopy. Intraocular pressure was 26 mmHg, despite maximal topical therapy. Optic disc examination showed severe glaucomatous cupping. Surgery by glaucoma drainage device implantation was performed. Conclusion: Essential iris atrophy is a rare clinical variant of ICE syndrome characterized by profound anatomical alterations of the anterior segment associated with corneal edema and secondary glaucoma. In these patients, selective keratoplasties have replaced penetrating keratoplasty to treat corneal decompensation and glaucoma drainage devices are preferred to conventional trabeculectomy for the treatment of secondary glaucoma

Diagnostic approach and epidemiology of Microbial Keratitis: findings from an Italian Tertiary Care center

Rapid identification of causative microorganisms of microbial keratitis (MK) and knowledge of the most common local pathogens are prerequisites for rational antimicrobial therapy. We retrospectively reviewed the characteristics of MK diagnosed at the IRCCS Arcispedale Santa Maria Nuova of Reggio Emilia (Italy) in a 5-years period, where the Ophthalmologist Unit is a reference center for corneal infections. During the study period, 183 MK were evaluated through corneal scrapings cultures. The positivity rate was 54,1%. A total of 107 microorganisms have been isolated: Acanthamoeba species was the etiologic agent in 19 cases. Pseudomonas aeruginosa and Staphylococcus aureus were more frequently isolated in bacterial keratitis, while Fusarium spp., Candida albicans, and Alternaria alternata were predominant among the fungal isolates. Strict cooperation between ophthalmologists and clinical microbiologists is advisable to allow the best diagnostic approach for MK

Preparation and Carbonization of Glucose and Pyromellitic Dianhydride Crosslinked Polymers

In this work, four types of nanosponges were prepared from pyromellitic dianhydride (PMDA) and D-glucose (GLU) with different molar ratios (1.5:1, 2:1, 2.5:1 and 3:1). The obtained PMDA/GLU nanosponges were then pyrolyzed at 800 °C for 30 min under N2 gas flow. The prepared polymeric nanosponges were investigated by FTIR spectroscopy, elemental and thermogravimetric analyses to unravel the role played by the different molar ratio of the precursors in the formation of the polymer. The pyrolyzed nanosponges were investigated by means of porosity measurements, X-ray diffraction analysis, Raman spectroscopy and high-resolution transmission electron microscopy. Notably, no significant correlation of the amounts of used precursors with the porous texture and structure was evidenced. The results corroborate that PMDA and GLU can be easily combined to prepare nanosponges and that the carbon materials produced by their pyrolysis can be associated with glassy carbons with a microporous texture and relatively high surface area. Such hard carbons can be easily obtained and shrewdly used to segregate relatively small molecules and organic contaminants; in this study methylene blue adsorption was investigated

Hyperpigmented spots at fundus examination: a new ocular sign in neurofibromatosis type I

Background: Neurofibromatosis Type I (NF1), also termed von Recklinghausen disease, is a rare genetic disorder that is transmitted by autosomal dominant inheritance, with complete penetrance and variable expressivity. It is caused by mutation in the NF1 gene on chromosome 17 encoding for neurofibromin, a protein with oncosuppressive activity, and it is 50% sporadic or inherited. The disease is characterized by a broad spectrum of clinical manifestations, mainly involving the nervous system, the eye and skin, and a predisposition to develop multiple benign and malignant neoplasms. Ocular diagnostic hallmarks of NF1 include optic gliomas, iris Lisch nodules, orbital and eyelid neurofibromas, eyelid café-au-lait spots. Choroidal nodules and microvascular abnormalities have recently been identified as additional NF1-related ocular manifestations. The present study was designed to describe the features and clinical significance of a new sign related to the visual apparatus in NF-1, represented by hyperpigmented spots (HSs) of the fundus oculi. Results: HSs were detected in 60 (24.1%) out of 249 patients with NF1, with a positive predictive value of 100% and a negative predictive value of 44.2%. None of the healthy subjects (150 subjects) showed the presence of HSs. HSs were visible under indirect ophthalmoscopy, ultra-wide field (UWF) pseudocolor imaging and red-only laser image, near-infrared reflectance (NIR)-OCT, but they were not appreciable on UWF green reflectance. The location and features of pigmentary lesions matched with the already studied NF1-related choroidal nodules. No significant difference was found between the group of patients (n = 60) with ocular HSs and the group of patients (n = 189) without ocular pigmented spots in terms of age, gender or severity grading of the disease. A statistically significant association was demonstrated between the presence of HSs and neurofibromas (p = 0.047), and between the presence of HSs and NF1-related retinal microvascular abnormalities (p = 0.017). Conclusions: We described a new ocular sign represented by HSs of the fundus in NF1. The presence of HSs was not a negative prognostic factor of the disease. Following multimodal imaging, we demonstrated that HSs and choroidal nodules were consistent with the same type of lesion, and simple indirect ophthalmoscopy allowed for screening of HSs in NF1

Subretinal injection of recombinant tissue plasminogen activator and gas tamponade to displace acute submacular haemorrhages secondary to age-related macular degeneration

Purpose: To analyse the efficacy of subretinal injection of recombinant tissue plasminogen activator (rtPA) and gas tamponade for the displacement of submacular haemorrhage (SMH). Methods: This single-centre, retrospective, case series included 25 consecutive patients (25 eyes) who underwent pars plana vitrectomy (PPV) with subretinal rtPA injection and 20% sulphur hexafluoride (SF6) tamponade. The primary outcome was SMH displacement rate, defined as the absence of subretinal blood within (complete) or outside (partial) 1500 μm centred on the fovea one month after PPV. Secondary outcomes were final best-corrected visual acuity (BCVA), central macular thickness (CMT), recurrence probability, number of anti-vascular endothelial growth factor (VEGF) injections after PPV, and intra- and post-operative complications. Results: Successful displacement was obtained in all 25 eyes (100%), with complete and partial displacement obtained in 15 (60%) and 10 (40%), respectively. BCVA significantly improved from 1.81±0.33 to 1.37±0.52 LogMar at 12 months from surgery (p = 0.001). The bivariate correlation analysis revealed that earlier the surgery had better visual prognosis at the end of the follow-up (p = 0.007). CMT significantly decreased from 922 ± 273.69 µm at baseline to 403.53 ± 314.64 µm at 12 months follow-up (p < 0.001). SMH recurrence was observed in two (8%) patients with a mean survival time of 11.6 ± 0.339 months and a cumulative survival probability of 88% at the end of follow-up. After PPV, the mean number of anti-VEGF injections was 3.00 ± 0.957 with no correlation with final visual acuity (p = 0.365). No intraoperative complications were recorded. Only one patient developed open funnel retinal detachment 40 days after primary PPV. Conclusion: PPV with rtPA subretinal injection and SF6 tamponade is a safe and effective technique in displacing acute SMHs secondary to neovascular AMD. It is recommended to perform within 14 days from the onset of the symptoms to achieve BCVA improvement at 12 months and proper imaging to plan future anti-VEG treatment

Toward the estimation of river discharge variations using MODIS data in ungauged basins

This study investigates the capability of the Moderate resolution Imaging Spectroradiometer (MODIS) to estimate river discharge, even for ungauged sites. Because of its frequent revisits (as little as every 3 h) and adequate spatial resolution (250 m), MODIS bands 1 and 2 have significant potential for mapping the extent of flooded areas and estimating river discharge even for medium-sized basins. Specifically, the different behaviour of water and land in the Near Infrared (NIR) portion of the electromagnetic spectrum is exploited by computing the ratio (C/M) of the MODIS channel 2 reflectance values between two pixels located within (M) and outside (C), but close to, the river. The values of C/M increase with the presence of water and, hence, with discharge. Moreover, in order to reduce the noise effects due to atmospheric contribution, an exponential smoothing filter is applied, thus obtaining C/M⁎. Time series of hourly mean flow velocity and discharge between 2005 and 2011 measured at four gauging stations located along the Po river (Northern Italy) are employed for testing the capability of C/M⁎ to estimate discharge/flow velocity. Specifically, the meanders and urban areas are considered the best locations for the position of the pixels M and C, respectively. Considering the optimal pixels, the agreement between C/M⁎ and discharge/flow velocity is fairly good with values in the range of 0.65–0.77. Additionally, the application to ungauged sites is tested by deriving a unique regional relationship between C/M⁎ and flow velocity valid for the whole Po river and providing only a slight deterioration of the performance. Finally, the sensitivity of the results to the selection of the C and M pixels is investigated by randomly changing their location. Also in this case, the agreement with in situ observations of velocity is fairly satisfactory (r ~ 0.6). The obtained results demonstrate the capability of MODIS to monitor discharge (and flow velocity). Therefore, its application for a larger number of sites worldwide will be the object of future studies