Purpose: Central Areolar Choroidal Dystrophy (CACD) is a monogenic hereditary retinal disorder characterized by progressive degeneration. In most cases, CACD presents an autosomal dominant inheritance pattern in which patients carry single mutation the peripherin (PRPRH2) gene. This study functional, immunohistochemical and transcriptomic analysis of retinas mouse model carrying p.Arg195Leu PRPH2 Methods: Neural from Prph2 WT/WT WT/KI mice were used at different ages. Electroretinogram (ERG)...

This study assessed retinal cells in the macula of human donors with diabetes or without retinopathy. Seventeen donor retinas were classified as mellitus (DM, n = 7), diabetic retinopathy (DR, 3), control (n 8). Macular transversal sections analyzed for photoreceptors, bipolar cells, horizontal ganglion their synaptic connections, and Müller using immunohistochemistry confocal microscopy. The densities thickness inner plexiform layer (IPL) quantified around fovea. In macula, cone...

Different ocular alterations have been described in patients with coronavirus disease 2019 (COVID-19). Our aim was to determine whether COVID-19 affected retinal cells and establish correlations clinical parameters.Retinal sections flat-mount retinas from human donors (n = 16) controls 15) were immunostained. The location of angiotensin-converting enzyme 2 (ACE2) the morphology microglial cells, Müller astrocytes, photoreceptors analyzed by confocal microscopy. Microglial quantification area...

Ischemia is the main cause of cell death in retinal diseases such as vascular occlusions, diabetic retinopathy, glaucoma, or retinopathy prematurity. Although excitotoxicity considered primary mechanism during an ischemic event, antagonists glutamatergic receptors have been unsuccessful clinical trials with patients suffering ischemia stroke. Our purpose was to analyze if transient receptor potential channel 7 (TRPM7) could contribute dysfunction pathologies associated ischemia. By using...

Choroidal dystrophies comprise a group of chorioretinal degenerations. However, the different findings observed among these patients make it difficult to establish correct clinical diagnosis. The objective this study was characterize new by optical coherence tomography (OCT) and angiography (OCTA) in patients. Four family members with PRPH2 gene mutation (p.Arg195Leu) were included. OCT performed at macula, thickness outer inner retina, total choroid measured. features vascular network...

Ultraviolet light A (UVA) is the only UV that reaches retina and can cause indirect damage to DNA via absorption of photons by non-DNA chromophores. Previous studies demonstrate UVA generates reactive oxygen species (ROS) leads programmed cell death. Programmed death (PCD) has been implicated in numerous ophthalmologic diseases. Here, we investigated receptor interacting protein 1 3 (RIPK1 RIPK3) kinases, key signaling molecules PCD, UVA-induced photoreceptor injury using vitro ex vivo...

Abstract Central areolar choroidal dystrophy is an inherited disorder characterized by progressive choriocapillaris atrophy and retinal degeneration usually associated with mutations in the PRPH2 gene. We aimed to generate characterize a mouse model p.Arg195Leu mutation previously described patients. Heterozygous ( Prph2 WT/KI ) homozygous KI/KI mice were generated using CRISPR/Cas9 system introduce mutation. Retinal function was assessed electroretinography optomotor tests at 1, 3, 6, 9,...

Retinitis pigmentosa is primarily characterized by a massive photoreceptor loss. But global retinal remodeling occurs in later stages of the disease. At that phase, glial cells and vasculature are also strongly affected. The main aim present work to assess if bile acid Tauroursodeoxicholic (TUDCA), which has demonstrated neuroprotective effect numerous neurodegenerative diseases, able prevent vascular degeneration P23H rat retina. Homozygous (line 3) animals were injected weekly with TUDCA...

Aims/Purpose: Central areolar choroidal dystrophy (CACD) is a rare hereditary disease that leads to progressive retinal and choriocapillaris degeneration vision loss. In Spain, there family suffering this disease, since they carry the mutation p.Arg195Leu in PRPH2 . Our team have generated mouse model of CACD carrying same as Spanish patients. aim was characterize progression retina structurally morphologically new murine model. Methods: We studied C57BL/6J‐Prph2 em1Sal by...

Familial dysautonomia (FD) is a rare genetic neurodevelopmental and neurodegenerative disorder. In addition to the autonomic peripheral sensory neuropathies that challenge patient survival, one of most debilitating symptoms affecting patients' quality life progressive blindness resulting from steady loss retinal ganglion cells (RGCs). Within FD community, there concerted effort develop treatments prevent RGCs. However, mechanisms underlying death RGCs are not well understood. To study RGC...

Abstract Purpose Central areolar choroidal dystrophy is an inherited disorder characterized by progressive choriocapillaris atrophy and retinal degeneration, usually associated with mutations in the PRPH2 gene. We aimed to generate characterize a mouse model p.Arg195Leu mutation previously described patients. Methods Heterozygous ( Prph2 WT/KI ) homozygous KI/KI mice have been generated using CRISPR/Cas9 system introduce Arg195Leu mutation. Retinal function was assessed electroretinography...

Abstract The rd10 mouse is a model of autosomal recessive retinitis pigmentosa (RP). This animal carries mutation in the Pde6b gen that generates progressive loss photoreceptors which leads to complete blindness. aim this study was evaluate effect environmental light intensity on degenerative process model. Three mice groups have been exposed from birth P30 different intensities: low (5 lux), medium (50 lux) and high (300 intensity. Age‐matching C57BL/6J were used as controls. At end...

Abstract Purpose Central choroidal dystrophies are retinal diseases characterized by progressive choriocapillaris atrophy and degeneration that usually associated with a single mutation in the PRPH2 gene. Thus, purpose of this work was to generate mouse model same p.Arg195Leu described diagnosed human patients. Methods Prph2KI/WT Prph2KI/KI mice have been designed generated using CRISPR system introduce Arg195Leu mutation. The function analyzed electroretinography (ERG) optomotor test....

Abstract Purpose The presence of SARS‐CoV‐2 in the eye and different alterations ocular tissues have been described. However, health state retinal cells these patients is unknown. aim was to analyze morphology glial activation human donor deceased by COVID‐19. Methods Retinas from donors with COVID‐19 ( n = 9) a group control 5) were analyzed. Samples obtained General University Hospital Consortium Valencia. Photoreceptors, Müller cells, astrocytes, microglia blood vessels location ACE2...

Abstract Purpose Retinal degeneration compromises retinal metabolism and signaling, including lipid pathways. Fatty acids are highly enriched in the retina they impact photoreceptor survival. In this study, we aimed to identify fatty that could be relevant degeneration. For purpose, analyzed acid profile of rd10 mice, model retinitis pigmentosa. Methods C57BL/6J mice were extracted by Folch method GC/MS. Morphological changes studied immunohistochemistry. Results there was a drop rows...

Abstract Purpose: Ocular and eye fundus alterations have been described in COVID‐19 patients. In this study, the aim was to establish several stages of response damage retinal cells from human donors with analyse their relationship clinical parameters. Methods: Retinal sections flat‐mount retinas ( n = 16) control 12) were analysed immunohistochemistry. The location angiotensin‐converting enzyme 2 (ACE2) morphology microglial cells, Müller astrocytes, photoreceptors evaluated by confocal...

Abstract Purpose: Amblyopia is a visual developmental disorder characterized by unilateral, or rarely bilateral, reduction of the best‐corrected acuity. Some controversy existed since some authors have observed greater macular and choroidal thickness in amblyopic eyes using optical coherence tomography (OCT) OCT angiography (OCTA). The aim this study was gathering scientific literature to define if structural changes are present retina choroid patients. Methods: Articles from 2016 up January...

Abstract Purpose: Retinal neurodegeneration in diabetic patients appears to occur along with the vascular abnormalities. Some structural and functional changes have been described retina of these patients. The aim was describe morphological alterations present retinal cells network macula human donor diabetes. Methods: Retinas diabetes or retinopathy ( n = 5) control 3) were processed cross‐sections flat mount retinas. analysed through immunohistochemistry confocal microscopy. Analysis...

Abstract Purpose: The omega‐3 fatty acid, DHA, is enriched in the outer disk and synapse membranes, it exerts an anti‐inflammatory anti‐apoptotic effect neuron cells. Animal models patients with retinal dystrophies were reported to have reduced levels of DHA retina, so different nutraceuticals designed for these patients. Nevertheless, still unknown how cached distributed retina. MFSD2a was as putative transporter omega‐3, but its expression only described endothelial In this study, we...