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AIM: To examine neuroretinal function by using the multifocal electroretinography (mfERG) test in patients with neurofibromatosis type 1 (NF1) without optic pathway gliomas (OPGs). METHODS: This study was conducted on 35 patients (35 eyes) with NF1 and 30 healthy subjects (30 eyes) for the control group. Each subject underwent a complete ophthalmological examination including spectral domain-optical coherence tomography (SD-OCT) and mfERG. The 1.5-Tesla magnetic resonance imaging (MRI) scan of the brain was performed in NF1 patients to assess the presence of OPGs. All participants were recruited having a best corrected visual acuity (BCVA) of no less than 20/20 in each eye. The amplitude and implicit time of the P1 wave (first-order Kernel component) were evaluated on mfERG. Data analysis was carried out in the two central degrees and in the four quadrants from two to 25 degrees of visual field. RESULTS: Statistically significant results were obtained for the P1 wave amplitudes in the 4 quadrants in NF1 patients compared to healthy controls, while the reduction was not significant in the 2 central degrees between the groups. A statistically significant difference was observed among the P1 wave amplitudes as recorded in the 4 quadrants within the NF1 group, with lower amplitudes detected in the nasal quadrants. No differences in the implicit times were recorded in the 2 central degrees and in the 4 quadrants as compared between NF1 patients and controls. CONCLUSION: Impaired neuroretinal function in NF1 patients is expressed in a decreased amplitude of the P1-wave between 2 and 25 central retinal degrees on mfERG. Altered intracellular signal transduction due to abnormal neurofibromin-mediated cyclic adenosine monophosphate (cAMP) generation, can be involved. The possible use of mfERG as subclinical retinal damage indicator has a potential utility in clinical practice for the follow-up of NF1 patients.

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.

Introduction Neurofibromatosis type 1 (NF1) is a multisystemic disease caused by the mutation of Nf1 gene located on chromosome 17q11.2. The mutation determines the loss of function of the protein neurofibromin with consequent uncontrolled cellular proliferation. Patients are characterized by a wide range of dermatological, neurological, and ophthalmological symptoms. Purpose The aim of the study was to evaluate, through pattern visual evoked potentials (p-VEPs) and frequency doubling technology (FDT) Matrix perimetry, the objective and psychophysical functionality of the optic pathways in a group of NF1 patient. Methods The study group consisted of 26 patients affected by NF1 and 17 healthy controls. Each patient underwent a complete ophthalmological examination, p-VEPs with the evaluation of amplitude and latency of the P100 wave, and FDT perimetry, with the evaluation of central sensitivity (CS), mean deviation (MD), pattern standard deviation (PSD) and glaucoma hemifield test (GHT). Results NF1 patients showed a statistically significant alteration in the transmission of visual impulse. P-VEPs results highlighted a reduced amplitude and an increased latency of the P100 wave, suggesting an involvement of the visual pathway. Visual field analysis showed a significant reduction in all the observed parameters as well (CS, MD, PSD, and GHT). Conclusion The present study showed, in NF1 patients, a qualitative and quantitative alteration in the conduction of stimuli through the visual pathways. The observed alterations are present, although, only at a subclinical level. None of the patients included in the study showed any manifest visual deficit nor had any concomitant pathology that might have affected the outcome of the study. In conclusion, electrophysiological exams and computer perimetry may take part, alongside a wider array of exams, in the differential diagnosis and later monitoring of NF1.

Neurofibromatosis Type 1 (NF1) is a rare neurocutaneous disorder transmitted in an autosomal dominant fashion, mainly affecting the nervous system, the eye and skin. Ocular diagnostic hallmarks of NF1 include iris Lisch nodules, optic gliomas, orbital and eyelid neurofibromas, eyelid café-au-lait spots. In recent years, a new ocular sign represented by choroidal abnormalities (CAs) has been characterized in NF1. The CAs, identified with near-infrared reflectance, have been reported with a frequency of up to 100% in NF1, and have recently been added to the actual diagnostic criteria for NF1. The present Letter to the journal is intended to provide an update on features and clinical significance of CAs in NF1. Moreover, the relation with other ocular manifestations recently described in NF1 including hyperpigmented spots and retinal microvascular abnormalities is discussed.

PurposeThe aim of this study was to provide a classification of the different retinal vascular arrangements in neurofibromatosis 1 (NF1), with appropriate qualitative and quantitative information.MethodsThis study was conducted on 334 consecutive patients with NF1 and 106 sex-matched and age-matched healthy control subjects. Each patient underwent a comprehensive ophthalmological examination inclusive of near-infrared reflectance retinography by using the spectral domain Optical coherence tomography (OCT), a complete dermatological examination and 1.5 T MRI scan of the brain to assess the presence of optic nerve gliomas. To evaluate the predictability and the diagnostic accuracy of our identified retinal microvascular arrangements, we calculated the diagnostic indicators for each pattern of pathology, with corresponding 95% CI. In addition, we evaluated the association between the microvascular arrangements and each National Institutes of Health diagnostic criteria.ResultsMicrovascular abnormalities were detected in 105 of 334 NF1 patients (31.4%), the simple vascular tortuosity was recognised in 78 of 105 cases (74.3%) and whether the corkscrew pattern and the moyamoya-like type showed a frequency of 42.8% (45 of 105 cases) and 15.2% (16 of 105 cases), respectively. We found a statistically significant correlation between the presence of retinal microvascular abnormalities and the patient age (p=0.02) and between the simple vascular tortuosity, the patient age and the presence of neurofibromas (p=0.002 and p=0.05, respectively).ConclusionsWe identified microvascular alterations in 31.4% of patients and a statistically significant association with patient age. Moreover, the most frequent type of microvascular alterations, the simple vascular tortuosity, resulted positively associated with age and with the presence of neurofibromas.

Antonietta Moramarco,1,* Ludovico Alisi,1,* Alessandro Lambiase,1 Sandra Giustini,2 Luca Lucchino,1 Emanuele Miraglia,2 Vincenzo Roberti,2 Marcella Nebbioso1 1Department of Sense Organs, Faculty of Medicine and Odontology, Sapienza University of Rome, Rome, 00161, Italy; 2Department of Dermatology, Sapienza University of Rome, Rome, 00185, Italy*These authors contributed equally to this workCorrespondence: Alessandro LambiaseDepartment of Sense Organs, Sapienza University of Rome, Viale del Policlinico 155, Rome, 00161, ItalyTel +39 06 49975357Fax +39 06 49975425Email alessandro.lambiase@uniroma1.itIntroduction: Gorlin-Goltz syndrome (GGS) also known as nevoid basal cell carcinoma syndrome (NBCCS) is a complex rare genetic disorder characterized by a wide range of clinical and radiological manifestations. Ophthalmological alterations have always been reported, but no study on the eventual pattern visual evoked potentials (pVEPs) abnormalities has yet been published.Purpose: The purpose of the study was to evaluate the functionality of the optic pathways in a group of NBCCS patients through pattern reversal VEPs, after a thorough exclusion of subjects with preexisting ocular and optic pathways pathologies.Methods: Nineteen NBCCS patients (31 eyes) and 20 healthy controls (40 eyes) have been recruited for this study. All subjects underwent an evaluation of the functionality of the optic pathways through pVEPs with small (120ʹ), medium (60ʹ), and large (15ʹ) check size stimulation.Results: NBCCS patients showed a statistically significant alteration in the transmission of the macular pathway function when compared to controls. PVEPs analysis confirmed a reduced amplitude and an increased latency of the P100 component, suggesting an involvement of the visual pathway even in the absence of ocular clinical manifestations.Conclusion: Visual pathways may have been affected both by a subclinical myelination deficit, determined directly by the genetic alteration, as well as by neurological abnormalities typical of this syndrome. Further studies are warranted.Keywords: Gorlin-Goltz syndrome, nevoid basal cell carcinoma syndrome, pattern visual evoked potentials, rare diseases, electrophysiology, visual pathway, genodermatosis, PATCH1

Graft-versus-host disease is a common complication of hematopoietic stem cell transplantation and the ocular surface is a main target of inflammatory reaction.

Hypoxia, a condition of low oxygen availability, is a hallmark of tumour microenvironment and promotes cancer progression and resistance to therapy. Many studies reported the essential role of hypoxia in regulating invasiveness, angiogenesis, vasculogenic mimicry and response to therapy in melanoma. Melanoma is an aggressive cancer originating from melanocytes located in the skin (cutaneous melanoma), in the uveal tract of the eye (uveal melanoma) or in mucosal membranes (mucosal melanoma). These three subtypes of melanoma represent distinct neoplasms in terms of biology, epidemiology, aetiology, molecular profile and clinical features.In this review, the latest progress in hypoxia-regulated pathways involved in the development and progression of all melanoma subtypes were discussed. We also summarized current knowledge on preclinical studies with drugs targeting Hypoxia-Inducible Factor-1, angiogenesis or vasculogenic mimicry. Finally, we described available evidence on clinical studies investigating the use of Hypoxia-Inducible Factor-1 inhibitors or antiangiogenic drugs, alone or in combination with other strategies, in metastatic and adjuvant settings of cutaneous, uveal and mucosal melanoma.Hypoxia-Inducible Factor-independent pathways have been also reported to regulate melanoma progression, but this issue is beyond the scope of this review.As evident from the numerous studies discussed in this review, the increasing knowledge of hypoxia-regulated pathways in melanoma progression and the promising results obtained from novel antiangiogenic therapies, could offer new perspectives in clinical practice in order to improve survival outcomes of melanoma patients.

Purpose. To describe frequency, clinical characteristics, and visual prognosis of tubercular uveitis (TBU) in a nonendemic country. Methods. We retrospectively reviewed 3743 charts of patients with endogenous uveitis visited from 2008 to 2018 at a tertiary referral centre in Rome, Italy. We included immunocompetent patients with diagnosis of TBU. Patients were divided in two groups: patients with history of uveitis without a previous diagnosis of TBU (group A) and patients at their first episode of TB uveitis (group B). Results. TBU was diagnosed in 28 (0.75%) out of 3743 patients. Twelve (42.9%) patients came from tuberculosis endemic areas. All patients received specific antitubercular treatment (ATT) and were evaluated for a mean follow-up of 3.2 ± 2.9 years. Group A showed a greater number of ocular complications when compared with group B. ATT was effective in reducing the frequency of recurrences of uveitis in patients of group B. Conclusion. Intraocular inflammation can be the first manifestation of tuberculosis. Our data highlight that early diagnosis and specific treatment of TBU may allow to decrease recurrences and to improve visual outcomes.

The aim of this study is to investigate the potential neuroprotective effect of high-doses vitamins B1, B6 and B12 in patients with relapsing-remitting multiple sclerosis (RRMS) and persistent visual loss after acute optic neuritis (AON). Sixteen patients (20 eyes) diagnosed with RRMS and visual permanent disability following AON were enrolled for the present open, pilot study. Each patient was treated with oral high-doses 300 mg of vitamin B1, 450 mg of vitamin B6 and 1,500 mcg of vitamin B12, as add-on treatment to concomitant disease-modifying therapies (DMTs) for consecutive 90 days. Outcome measures were to determine changes from baseline to month three in visual acuity (VA) and visual field (VF) testing, with correlations with clinical parameters. Logistical regression was performed to evaluate predictors of final VA. A statistically significant improvement was registered in visual acuity (p = 0.002) and foveal sensitivity threshold (FT) (p = 0.006) at follow-up compared to baseline. A similar trend was demonstrated for mean deviation (MD) (p < 0.0001), and pattern standard deviation (PSD) (p < 0.0001). Age at the time of inclusion was positively correlated with latency time (rho = 0.47, p = 0.03), while showing a negative correlation with visual acuity (rho = - 0.45, p = 0.04) and foveal sensitivity threshold (rho = - 0.6, p = 0.005) at follow up. A statistically significant correlation was demonstrated between foveal sensitivity threshold and visual acuity at baseline (rho = 0.79, p < 0.0001). In a linear regression model, the main predictor of visual acuity at follow up was the foveal sensitivity threshold (B = 1.39; p < 0.0001). Supplemental high-dose vitamins B1, B6 and B12 resulted as effective therapy to improve visual function parameters in MS-related visual persistent disability.

Purpose: To describe the clinical characteristics and visual prognosis of ocular involvement in syphilis.Design: A retrospective cohort study.Methods: We studied the charts of 24 patients who visited our Ophthalmological Centre in Rome, Italy. All patients with serological evidence of syphilitic infection were included.Results: Ocular involvement was the first manifestation of syphilitic disease in 96% and Human Immunodeficiency Virus (HIV) seropositivity was found in 29% of the cases. The most frequent ocular manifestation was posterior uveitis. Vitreous involvement was frequent. Patients with papillitis at onset showed better visual outcome with antisyphilitic treatment. Posterior uveitis at onset and HIV seropositivity were negative prognostic factors for visual outcome. HIV-positive patients showed more severe and frequent bilateral course of ocular involvement in syphilis.Conclusions: The ophthalmologist should suspect syphilis in patien ts with uveitis or optic neuropathy associated with high-risk sexual behaviour and/or HIV, or in patients with posterior placoid chorioretinitis, necrotising retinitis, or interstitial keratitis.

The aim of this study is to evaluate ocular surface morphological and functional changes in patients with neurofibromatosis type 1 (NF1). Twenty-eight patients with NF1 and 14 healthy subjects were included in this study. All participants underwent a medical history collection, a complete ophthalmological examination including slit lamp exam and assessment of best-corrected visual acuity (BCVA), corneal sensitivity, and lacrimal function (Schirmer test and fluorescein tear break-up time test). Corneal nerves’ morphology and endothelial cells density were evaluated by in vivo corneal confocal microscopy (IVCM). Tear and conjunctiva epithelium samples were collected to evaluate nerve growth factor (NGF) and brain-derived neurotrophic factor (BDNF) tear levels and conjunctival expression of their receptors TrkA and p75NTR. Patients with NF1 showed a significant decrease of FTBUT when compared with healthy subjects (p

Only a few reports in the literature have investigated the presence of ocular abnormalities in neurofibromatosis type 1 (NF-1) patients. The aim of this study was to evaluate the prevalence of ocular abnormalities in a large population of NF1 patients, focusing on the choroidal changes. This study was conducted on 160 consecutive patients with NF1 and 106 sex- and age-matched healthy subjects (control). Each patient underwent a complete ophthalmological examination inclusive of best-corrected visual acuity, intraocular pressure measurement, slit-lamp biomicroscopy, indirect fundus biomicroscopy, and near-infrared reflectance (NIR) retinography by using the spectral domain OCT. Moreover, all patients underwent complete dermatological exam and 1.5-Tesla MRI scan of the brain to assess the presence of optic nerve gliomas. Choroidal abnormalities were detected in 97% of patients, with a positive predictive value of 100% and a negative predictive value of 96.4%. Interestingly, a small number of patients (4/160; 2.5%) showed Lisch nodules without choroidal abnormalities, whereas a larger number of patents (22/160; 13.75%) presented choroidal lesions in absence of Lisch nodules. None of the patients showed the absence of both choroidal lesions and Lisch nodules. The number of choroidal lesions increased with age (r = 0.364, p = 0.0001) and with the severity of pathology (r = 0.23, p = 0.003). Any statistically significant correlation between choroidal lesions, visual acuity, and intraocular pressure was observed. NIR imaging represents an in vivo, non-invasive, sensitive and reproducible exam to detect choroidal nodules in NF-1 patients, suggesting that choroidal changes may represent an additional diagnostic criteria for NF1.

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.

Simple Summary Around 50% of patients with uveal melanoma (UM) still develop metastatic disease. Despite recent advances in the diagnosis and prognosis of UM, improvements in overall survival have not been achieved. At present, there is no available standard of care for adjuvant and metastatic settings. The aim of our review article was to discuss the latest advances in understanding the molecular mechanisms underlying uveal melanoma and novel treatment options for metastatic disease. We provided a detailed analysis of the most recently published works in the Literature along with a number of ongoing clinical trials for adjuvant and metastatic treatment of uveal melanoma. New insights into the pathogenesis of UM and promising results from the study of innovative tailored therapies could offer viable opportunities for translating in clinical practice. Abstract 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.

Background: patients with laryngopharyngeal reflux (LPR) showed detectable levels of tear pepsin that explain the nasolacrimal obstruction. The purpose of this study was to determine whether patients with LPR show ocular surface changes and to investigate the relationship between lacrimal pepsin concentration and ocular alterations. Methods: Fifty patients with positive endoscopic signs for LPR and an equal or higher score of 13 and 7 for Reflux Symptom Index and Reflux Finding Score were enrolled. Twenty healthy patients with no reflux disease and dry eye were included as the control group. After evaluation of ocular discomfort symptoms, the tear break-up time test, corneal staining, and tear sampling were performed. Tear pepsin levels were measured using Pep-testTM kit. Results: Patients with LPR showed ocular surface changes including epithelial damage (48%) and impairment of lacrimal function (72%). Tear pepsin levels were detectable in 32 out of 50 (64%) patients with LPR (mean ± SD: 55.4 ± 67.5 ng/mL) and in none of the control subjects. Most of the LPR patients complained of ocular discomfort symptoms, including itching (38%), redness (56%), or foreign body sensation (40%). Tear pepsin levels were significantly correlated with the severity of LPR disease and with ocular surface changes. Conclusions: A multidisciplinary approach, including ophthalmological evaluation, should be considered in order to improve the management of patients with LPR.

Orbital neurofibromas are uncommon in adults, accounting for approximately 1%-3% of all space occupying lesions of the orbit. The complex anatomy of the orbital region, with the pronounced vulnerability of its neurovascular structures, requires particular surgical precautions. Neuronavigation, as a high-tech device for intraoperative safety, represents a valuable option for the confined orbital space. However, the application of neuronavigation in orbital surgery has been rarely reported. The authors present a case report of a 32-year-old female with an isolated localized neurofibroma surgically approached by intraoperative navigation and a review of the literature.

We evaluated the presence of Ca, Na, K, Cu and Zn in the lenses and aqueous humour of rabbits treated with an Nd:YAG laser to induce opacity of the crystalline. The mean concentrations of the elements found in control lenses were: Ca: 15.8±5.2 mg/kg; Na: 1.2±0.6 g/kg; K: 10.3±3.3 g/kg; Cu: 0.19±0.06 mg/kg; Zn: 20.6±3.0 mg/kg. With the exception of K and Zn, the values found in the lenses of treated eyes (Ca: 135±24 mg/kg; Na: 4.3±1.5 g/kg; K: 10.1±3.2 g/kg; Cu: 0.47±0.17 mg/kg; Zn: 21.8±4.2 mg/kg) were significantly higher than in the controls. On the other hand, the concentrations found in the aqueous humour of treated eyes (Ca: 21.7±4.5 mg/l; Na: 0.66±0.21 g/l; K: 0.29±0.10 g/l; Cu: 0.035±0.009 mg/l; Zn: 0.079±0.01 mg/l) were significantly lower than those of the controls. The greatest difference was observed for Na (−68.6%) and Cu (−52.7%), followed by Ca and Zn (−35.0% and −35.2%, respectively). A positive correlation was found between Ca and Na in treated lenses ( r 2 = 0.9226 , p 0.0001 ) whereas inverse correlations were found for both Ca ( r 2 = 0.9788 , p 0.0001 ) and Na ( r 2 = 0.9491 , p 0.0001 ) between the concentrations found in the lenses and in the aqueous humour of treated eyes.

The determination of inorganic ions in cataractous human lenses has been the subject of several investigations; nevertheless, few studies have been concerned with trace element contents in lenses, and data are sometimes contradictory. An animal experimental model of induced cataract is here proposed with the aim of evaluating the changes of Ca, Na, K, Cu and Zn concentrations. The cataract was produced by an Nd:YAG Laser treatment of the right eye of sexteen male rabbits. The determination of the elements was performed by atomic absorption spectrometry (both flame and flameless methods) after an acid digestion of samples. Compared with the results obtained in left lenses used as a control (Ca 14.4+/-5.7 mg/kg d.w.; Na 1.3+/-0.5 g/kg d.w.; K 9.9+/-1.1 g/kg d.w.; Cu 0.24+/-0.09 mg/kg d.w.; Zn 24.8+/-2.3 mg/kg d.w.), the mean concentration values of opaque lenses showed some significant changes for Ca, Na, and Cu (Ca 123.7+/-106.6 mg/kg d.w.; Na 4.5+/-4.3 g/kg d.w; Cu 0.43+/-0.21 mg/kg d.w.). Potassium showed a tendency to decrease, and zinc to increase. Positive correlations were found between calcium and sodium both in controls (r=0.73, p0.001) and in treated lenses (r= 0.87, p0.0001). An inverse correlation between Ca and K confirmed the tendency of potassium to decrease.

To investigate ocular anomalies in joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type (JHS/EDS-HT).Prospective, cross-sectional study.Forty-four eyes of 22 consecutive patients with an established diagnosis of JHS/EDS-HT and 44 eyes of 22 age- and gender-matched control subjects. Administration of a standardized questionnaire (Ocular Surface Disease Index) and a complete ophthalmologic examination, including assessment of best-corrected visual acuity, slit-lamp biomicroscopy, intraocular pressure measurement, indirect ophthalmoscopy, tear-film break-up time, Schirmer I testing, axial length and anterior chamber depth measurement, corneal topography, corneal pachymetry, and confocal microscopy. Main outcome measures included comparing ocular anomalies in JHS/EDS-HT and control eyes.JHS/EDS-HT patients reported dry eye symptoms more commonly than controls (P.0001). Scores of tear-film break-up time and Schirmer I test were significantly lower in JHS/EDS-HT eyes (P.0001). Minor lens opacities were significantly more common in the JHS/EDS-HT group (13.6%; P.05). Pathologic myopia with abnormal vitreous was found in 7 JHS/EDS-HT eyes (15.9%) and 0 controls (P = .01). Corneas were significantly steeper and the best-fit sphere index was significantly higher in JHS/EDS-HT group (P.01). By confocal microscopy, the JHS/EDS-HT group showed lower density of cells in the superficial epithelium (P.001) and higher density of stromal keratocytes in anterior and posterior stroma (P.0001).The most consistent association of eye anomalies in the JHS/EDS-HT group included xerophthalmia, steeper corneas, pathologic myopia, and vitreous abnormalities, as well as a higher rate of minor lens opacities. These findings indicate the need for ophthalmologic survey in the assessment and management of patients with JHS/EDS-HT.

The determination of inorganic ions such as Ca, K, and Na in cataractous lenses has been the subject of several investigations. On the other hand, few studies have been concerned with trace element contents in lenses and with their changes under pathological conditions. Moreover, the data reported are sometimes rather contradictory. The present investigation was carried out to evaluate the presence of Ca, Cu, K, and Zn in human lenses (53 cataractous and 10 clear lenses). Determinations of the elements were performed by atomic absorption spectrometry (both flame and flameless methods) after acid digestion of samples. Compared with results obtained in samples from normal subjects (namely, Ca, 9.9 ± 2.7; Cu, 0.53 ± 0.08; K, 10,306 ± 1232; Zn, 16.5 ± 2.5 mg/kg dry wt), the mean concentration values of cataractous lenses showed significant changes on the basis of the Mann-Whitney test. In fact, sensible increases in concentrations were noted for three of the said elements (Ca, 514 ± 449; Cu, 0.74 ± 0.22; Zn, 24.3 ± 6.0 mg/kg dry wt), whereas K showed a lower concentration (6440 ± 3003 mg/kg dry wt). A positive correlation was found between Zn and Cu concentrations (Y = 0.030X + 0.007, r = 0.79) while an inverse one was valid between Ca and K (Y = −0.097X + 1141, r = 0.65).

The purpose of this study was to determine the relationship between steroid hormone balance in fertile women and the progression of high myopia. Variations of Cortisol, progesterone, and estradiol were evaluated. A case-control clinical trial was conducted on two groups of subjects. The first group included patients affected by high myopia (with insufficient optical correction). The control group was composed of emmetropic or hypermetropic women of the same age group. We observed increased serum Cortisol levels in the women with high myopia, whereas progesterone and 17-β-estradiol did not differ between the two groups. The significantly higher Cortisol values in the group with high myopia supported Balacco Gabrieli’s theory on the role of hormonal balance in the progression of high myopia.

Objective: To report the prevalence of age-related maculopathy (ARM) in Salandra, a small, isolated southern Italian community, to test the hypothesis that an environmental factor, scarce in such a remote community but ubiquitous in modern industrial societies, might modify the risk of developing ARM. Design: Population-based cross-sectional survey. Main Outcome Measures: Prevalence of advanced age-related macular degeneration (ARMD) (geographic atrophy or exudative maculopathy) and ARM (large, soft drusen or retinal pigment epithelium changes, or both) defined by fundus biomicroscopy and 30° stereoscopic macular photography. Self-sustenance was assessed by interview of participants and local shop retailers. The degree of genetic isolation was computed using a model that fits the genetic population structure with the frequency distribution of surnames in the community. Results: A full ophthalmic examination was undertaken in 366 (63.5%) of 576 eligible participants, 354 (96.7%) of whom had clinical or photographic assessment for the presence of ARMD and 310(84.6%) of whom had drusen characteristics graded on color transparencies for ARM. The overall prevalence of ARMD was 1.1%. Drusen larger than 50 μm and more numerous than 10 were found in 4.5% of subjects. Salandra was the birthplace of 87.2% of participants and for 77.3% of both parents of each subject. People in the community tended to consume homegrown products. Conclusion: The prevalence of ARM may be lower in this self-sustained farming community than elsewhere in the industrialized world.

To evaluate the prevalence of age-related maculopathy (ARM) and age-related macular degeneration (AMD) lesions. Secondary outcome includes to examine 16 potential risk factors and their prevalence for attribution of risk for ARM and AMD in Montelparo, a small, rural and homogeneous population in central Italy.A population aged 65 years old and over underwent a detailed interview about demographic notices and possible main risk factors for ARM and AMD. The following information were assessed as medical variables with bivariate analysis: demographic variables such as age and gender, dietary intake (meat, alcohol, fresh and cooked vegetables, fruit and fish), lifestyle factors (smoking, time of sunlight exposure, physical activity), medical history (cataract, hypertension, glaucoma, drug intake and body-mass index). Clinical examination included visual acuity measurement, anterior and posterior segment examination, fundus photography grading using The International Classification and Grading System. Any image was further classified according to the Clinical Age-Related Maculopathy Staging (CARMS) system.210 patients (79%) of a farmer community participated the study. Prevalence of ARM resulted in 38.5%, drusen larger than 125 micron were found in 14.81%, AMD was 4.28%. The attributable risk estimate, reveal that age (p = 0.014), prior cataract surgery (p = 0.00) and hypertension history (p = 0.005), have the greatest impact on the prevalence of ARM in the community. A vegetable based diet, seems to prevent such effect (p = 0,007).This study show age as the only dominant invariable factor. Prior cataract surgery and hypertension seems to play an effective role in increasing the risk of maculopathy. Our results provides further evidence that a diet poor in alcohol, rich in vegetables and in polyunsaturated fat could reduce risk of AMD.

To determine whether methylene tetrahydrofolate reductase (MTHFR) C677T mutation, factor II G20210A mutation and factor V Leiden are risk factors for retinal vein occlusion (RVO) in patients under fifty years of age.Comparison of 29 patients, under 50 years old of age, as affected RVO and 62 age matched normal controls. Plasma MTHFR C677T genotype, Factor II G20210A genotype, Factor V Leiden genotype, S protein level, C protein level, APCR presence (Actived Protein C Resistance), homocysteine level and Beta-thromboglobulin level were determined.Seventeen RVO patients and twenty-one controls were heterozygous for the MTHFR C677T mutation. Three RVO patients and twenty-three controls were homozygous for the MTHFR C677T mutation. Three RVO patients and two controls were heterozygous for the factor II G20210A mutation. One control was heterozygous for the factor V Leiden.This study fails to demonstrate that these mutations are risk factors for RVO in patients under fifty years of age.

The authors implanted intraocular lenses (IOL) in 780 eyes and considered complications of this surgery, dividing the complications into intraoperative and postoperative, the latter early and late. The most frequent intraoperative complications were: hyphema, vitreous injury, pupil deformation with an IOL in the anterior chamber (AC), and hyphema and corneal lesions with an IOL in the posterior chamber (PC). Among the early postoperative complications of an IOL in the AC the authors noticed striate keratopathy and uveal flare and postoperative transitory ocular hypertension and striate keratitis with an IOL in the PC. Moreover, in late postoperative complications in AC implantation they observed: cystoid macular edema, bullous keratitis, retinal detachment, late uveitis, opacification of posterior capsule, eccentric displacement of the IOL, and less frequently, cystoid macular edema in PC implantations. The authors prefer IOL implantation in the PC after extracapsular cataract extraction, since this surgery causes less problems in the cornea, vitreous, and retina.

A total of 153 patients with human immunodeficiency virus (HIV) infection underwent complete ophthalmologic examinations for the presence of any eye pathology. We wanted to show a correlation between such pathology and total CD4+ lymphocyte count, believed to be an indicator of immunologic status. The most frequently encountered lesions were cotton-wool patches, vascular congestion, hemorrhages, chorioretinitis, segmental vasculitis, and pallid papilla. Almost all of the patients with ocular anomalies also had a CD4+ count of less than 200 cells/mm3 suggesting that ocular lesions have a negative prognostic significance even in asymptomatic patients who present with a severe impairment of their immune system.