Neurofibromatosis Type 1-Retinal Alterations Detectable with Optical Coherence Tomography Angiography.

Neurofibromatosis type 1 (NF 1) is a multisystemic genetic disorder involving aberrant proliferation of multiple tissues of a neural crest origin. It represents a tumor predisposition syndrome characterized by a wide range of clinical manifestations, such as benign tumors, which primarily affect the skin and the nervous system. The most frequent clinical signs of NF 1 include café-au-lait spots all over the surface of the skin and axillary freckling; however, these signs can be accompanied by more severe manifestations such as the growth of both benign and malignant nervous system tumors and skeletal dysplasia, as well as a wide range of ocular manifestations. We report the rare case of retinal microvascular alterations and choroidal nodules in a 15 year old male patient with NF 1, detectable on optical coherence tomography angiography (OCTA). The hyperreflective choroidal nodules modified the profile of the choroidal vasculature. The retinal microvascular alterations in the form of clustered capillaries were detected in the superficial capillary plexus located nasally to the macular region. Retinal vascular abnormalities undetectable on fundus photography or fundoscopy can be present in patients with NF 1. Indirect ophthalmoscopy of our study patient was unremarkable. However, retinal vascular abnormalities were seen on OCTA scans in the superficial capillary plexus and choroidal nodules were detected on raster OCT scans. OCTA represents a useful imaging technique for detecting retinal microvascular abnormalities, which can be considered additional distinctive signs of NF 1.

Retinal Microvascular Alterations in a Patient with Type 1 Diabetes Mellitus, Hemoglobin D Hemoglobinopathy, and High Myopia-Case Report and Review of the Literature.

Type 1 diabetes mellitus (type 1 DM) is one of the most prevalent endocrinological diseases among children and young adults, with a growing incidence rate reaching up to 2.9 new cases per year per 100,000 persons below 15 years of age. We report a rare case of a 20-year-old female patient with type 1 DM, hemoglobin D (HbD) heterozygote variant and high myopia of -10.00 spheric diopters, and describe the retinal microvascular alterations visible on OCT angiography (angio-OCT). The patient also presented with a severe stature deficit (less than three standard deviations) and delayed puberty, which could not be explained only by suboptimal glycemic control and indicated possible hypopituitarism. HbA1c level evaluated with the high-performance liquid chromatography (HPLC) method was 6.5%, a falsely low value due to HbD hemoglobinopathy. On ophthalmic evaluation, the angio-OCT scan showed the following retinal microvascular alterations in the right eye (RE): the FAZ (Foveal Avascular Zone) area was 0.39 mm2, the FAZ perimeter was 2.88 mm, and the circularity index was 0.58. The following alterations were shown in the left eye (LE): the FAZ area was 0.34 mm2, the FAZ perimeter was 3.21 mm, and the circularity index was 0.41. Clinicians should consider high-performance retinal screening methods such as angio-OCT evaluation for young type 1 DM patients, especially for those with associated pathologies like high myopia and hemoglobinopathies. Moreover, multiple evaluation methods of HbA1c values are mandatory as hemoglobinopathies can interfere with the accuracy of HbA1c assay methods.

Early Retinal Microvascular Alterations in Young Type 1 Diabetic Patients without Clinical Retinopathy.

The purpose of this study is to identify and quantify preclinical changes with the help of optical coherence tomography angiography (OCTA) within the retinal microcirculation of young type 1 diabetes (T1D) patients without clinical signs of diabetic retinopathy (DR) and to compare these results with those obtained from healthy age-matched subjects. OCTA is currently used for monitoring diabetic retinopathy; however, there is no current consensus on which OCTA parameter alterations predict the first clinical signs of diabetic retinopathy. The main challenge that young patients with T1D face during the course of the disease is that they can rapidly progress to the development of DR, especially during adolescence. Moreover, they also present an increased risk of rapid progression toward advanced stages of DR and vision loss compared to type 2 diabetes patients, indicating the importance of early diagnosis and intervention. The limitations of the currently used screening procedures that led to the conceptualization of our study are the difficulties in performing fluorescein angiography tests for diagnosing the clinical signs of DR on young patients, namely the invasive procedure of dye injection, the risk of allergic reactions and the long duration of the examination. Moreover, given the long life expectancy of young T1D patients, it is essential to identify the preclinical changes in retinal microvasculature before reaching the first clinical signs quantifiable by FFA. The clinical study enrolled 119 subjects aged between 4 and 30 years old with a mean age of 13 years old, comprising 61 T1D patients with a mean duration of the disease of 4 years and 8 months and 58 healthy age-matched subjects for the control group. OCTA scans were performed using the RevoNX 130 OCTA device (Optopol) to evaluate the following retinal parameters: foveal avascular zone (FAZ) area, perimeter and circularity, overall foveal thickness, and superficial and deep vessel densities. Statistically significant differences between the two groups were identified for the following parameters: the FAZ area in the T1D group (0.42 ± 0.17) was larger than the control group (0.26 ± 0.080), the FAZ circularity (0.41 ± 0.11) was decreased compared to the control group (0.61 ± 0.08) and the FAZ perimeter was larger (3.63 ± 0.97) compared to the control group (2.30 ± 0.50). The overall foveal thickness was decreased in the T1D group (222.98 ± 17.33) compared to the control group (230.64 ± 20.82). The total vessel density of the superficial capillary plexus (SCP) on an investigated area of 6 X 6 mm centered around the fovea was decreased in the T1D group (37.4164 ± 2.14) compared to the control group (38.0241 ± 2.44). Our data suggest that specific imaging biomarkers such as FAZ perimeter, area and circularity, decreased overall foveal thickness and decreased vessel density in the SCP precede the clinical diagnosis of DR in young T1D patients and represent useful parameters in quantifying capillary nonperfusion in T1D patients without clinical signs of DR.

The Impact of the Associated Pathology in Acute Coronary Events.

Acute coronary events (ACE) are one of the main concerns for both clinical medicine and prophylaxis. The study aims to follow the frequency of the pathology associated with ACE and to establish its association with the occurrence of ACE. The study included 865 adult participants between the ages of 19-86. Subjects completed a complex questionnaire that included questions about health status. The study was conducted by applying the subjects to an anonymous questionnaire, in three family medicine practices between November 2018 to May 2019 and targeted healthy people. The frequencies of the following types of associated pathologies were evaluated: high blood pressure (HBP), hypercholesterolemia, stroke, diabetes, depression, stress. In hypertensive patients the prevalence of ACE was 6,99% (N=11) and in those not diagnosed with HBP of only 0,29% (N=2). The risk of ACE was 20 times higher than in those without HBP (RR=20,93; p<0.001). The prevalence of ACE was high among subjects with high cholesterol levels (21,43%) compared with those with normal values (3,03%; N=22), the risk of ACE being 7 times higher (RR=7,06; p<0.001). The prevalence of diabetes was more than four times higher in subjects with ACE (17,3%; N=9) compared with those without ACE (3,9%; N=32). Among those affected by diabetes, the prevalence of ACE was 21,95% (9/41), and risk of ACE in people with diabetes was four times higher (RR=4,21; p<0.001). Although cardiovascular disease is the most common pathology in the contemporary world, a number of comorbidities arise as ACE generators (hypertension, hypercholesterolemia, diabetes), along with psycho-emotional disorders such as depression, anxiety or stress, which outline, ensures, contributes or accelerates the progression to ACE.

Three-Dimensional Model of the Human Eye Development based on Computer Tomograph Images.

The objective of this study was to obtain a virtual biomechanical three dimensional model of the human eye though a multidisciplinary collaboration between researchers in various medical and informational fields in order to reach a better understanding of the optical performance of the healthy and diseased eye. MATERIAL AND METHOD: In order to obtain the virtual model, we analyzed the CT and MRI images of six patients, aged between 21 and 80 years old, dating from February 2013 until January 2019. These scans totalized 4226 images. We selected to use for the construction of the model the CT images of a male patient of 54 years old. In Vesalius and Geomagic for SolidWorks programs were used. RESULTS: Based on the CT images analysis and using the above mentioned programs, we created a virtual model of the human skull in which the orbit is located, including the eye globe and the extraocular muscles. The SolidWorks virtual model allows the attachment of materials with real properties of the eye tissues. This model can be used in various simulations for the healthy and diseased eye. CONCLUSIONS: The biomechanical eye model of the eye was created based on a "in vivo" eye model. As the SolidWorks format enables using materials with identical properties to those of the human eyeball, this virtual model can provide very realistic eye simulations.