• In people with cone-rod dystrophy, vision loss occurs as the light-sensing cells of the retina gradually deteriorate. (medlineplus.gov)
  • The genes associated with cone-rod dystrophy play essential roles in the structure and function of specialized light receptor cells (photoreceptors) in the retina . (medlineplus.gov)
  • Mutations in any of the genes associated with cone-rod dystrophy lead to a gradual loss of rods and cones in the retina. (medlineplus.gov)
  • Similar to retinitis pigmentosa in humans, it is characterized by the bilateral degeneration of the retina, causing progressive vision loss culminating in blindness. (wikipedia.org)
  • All identified variants affect either a retina-predominant transcript or are hypomorphic, suggesting a basis for a nonsyndromic retinal phenotype. (nature.com)
  • 1 While the fundus findings may be predominantly located at the central retina, in the vast majority of MDs there is psychophysical, electrophysiological or histopathological evidence of more widespread, generalised retinal involvement. (bmj.com)
  • Dysfunction or defects in cilia are now understood to underlie a number of genetic forms of retina conditions such as cone-rod dystrophy, Usher syndrome and Bardet-Biedel syndrome. (retina-international.org)
  • Some 422 delegates including patients and their families, clinicians, scientists, rehabilitation professionals, students and anyone with an interest in retinal disorders were stimulated and enthused by the 4-day programme of short scientific presentations, expert panels, treatment approach plenaries, Retina International business and learning meetings and social events. (retina-international.org)
  • Retinal dystrophies are a group of eye disorders characterized by the degeneration of different parts of the retina. (chop.edu)
  • Anterograde degeneration (Wallerian degeneration) - Degeneration begins in the retina and proceeds toward the lateral geniculate body (eg, toxic retinopathy, chronic simple glaucoma). (medscape.com)
  • Certain inherited dystrophies of the retina that alter the visual pigments and can render the retina especially sensitive to visible light. (cet.org)
  • Our investigations utilize in vivo mouse retina and human retinal organoids derived from pluripotent stem cells as study systems. (nih.gov)
  • And in more stem cell news , researchers from UCLA found that human embryonic cells could be used to improve vision in patients who were legally blind due to age-related macular degeneration and Stargardt s macular dystrophy, both eye disorders affecting the retina. (acsh.org)
  • The team are now working to get these new retinal cells to self-organize spatially, as seen in the human macula, and then to position them correctly in the eye to enable them to connect up to the host retina so they can perform their functions. (medicalxpress.com)
  • Recent studies have shown a strong association between Elmiron use and pigmentary maculopathy-a unique form of retinal eye disease that causes damage to the retina and can often be confused with age-related macular degeneration or pattern dystrophy. (meshbesher.com)
  • Retinitis pigmentosa is a slowly progressive, bilateral degeneration of the retina and retinal pigment epithelium caused by various genetic mutations. (msdmanuals.com)
  • Diagnosis is by funduscopy, which shows pigmentation in a bone-spicule configuration in the equatorial retina, narrowing of the retinal arterioles, a waxy pallor of the optic disk, posterior subcapsular cataracts, and cells in the vitreous. (msdmanuals.com)
  • Some of the genes associated with cone-rod dystrophy are also associated with other eye diseases, including a group of related eye disorders called rod-cone dystrophy. (medlineplus.gov)
  • Progressive retinal atrophy (PRA) is a group of genetic diseases seen in certain breeds of dogs and, more rarely, cats. (wikipedia.org)
  • Inherited retinal diseases (IRDs) are a clinically and genetically heterogeneous group of disorders that often lead to photoreceptor degeneration. (nature.com)
  • This volume provides an update on retinal diseases, describing the genetic and pathophysiological basis of the diseases and advances in strategies to treat them. (cshlpress.com)
  • Ophthalmologists should keep in mind that in some genetic retinal diseases the eyes are especially light sensitive. (cet.org)
  • Retinal and macular diseases are a major cause of visual impairment and affect the quality of life of millions worldwide. (nih.gov)
  • The team investigates both Mendelian and complex diseases as well as functional work with a focus on cataracts, retinal degenerations, myopia and corneal dystrophies. (goldenhelix.com)
  • Dr. Grant is an ophthalmologist studying the use of stem cells for vascular repair in retinal diseases at the University of Alabama at Birmingham. (nih.gov)
  • Metabolic syndrome (MetS) is associated with several degenerative diseases, including retinal degeneration. (molvis.org)
  • The researchers turned human embryonic cells into retinal pigment epithelial cells, which are destroyed by these two diseases, and transplanted these cells into the retinas of the 18 study subjects. (acsh.org)
  • Eye research charity Fight for Sight has announced funding for a ground-breaking stem cell research study which could reverse sight loss for people with macular diseases such as age-related macular degeneration and juvenile macular dystrophies. (medicalxpress.com)
  • Progress in stem cell research with the help of organoids is opening new and exciting avenues for research on sight loss caused by macular diseases such as age-related macular degeneration -a condition that can have a devastating impact on those living with it, hugely impeding independence for people later in life. (medicalxpress.com)
  • Cone Rod Dystrophy (CRD) is an umbrella disorder that encompasses more than 30 variants of inherited diseases. (esighteyewear.com)
  • She is an interdisciplinary scientist who uses unique animal models to investigate the cellular and molecular biology of retinal diseases and disorders. (brightfocus.org)
  • Although the photoreceptors in these diseases degenerate over time, the retinal neurons remain functional. (eurekalert.org)
  • Andrew Lotery is an ophthalmologist with major research interests in age-related macular degeneration, central serous chorio-retinopathy and inherited retinal diseases. (southampton.ac.uk)
  • In addition I am participating in a number of clinical trials at different stages evaluating novel treatments for AMD and inherited retinal diseases. (southampton.ac.uk)
  • Mutations in more than 30 genes are known to cause cone-rod dystrophy. (medlineplus.gov)
  • Mutations in the ABCA4 gene are the most common cause of autosomal recessive cone-rod dystrophy, accounting for 30 to 60 percent of cases. (medlineplus.gov)
  • We show that IFT80 mutations underlie a subset of Jeune asphyxiating thoracic dystrophy cases, establishing the first association of a defective intraflagellar transport (IFT) protein with human disease. (nih.gov)
  • A gene therapy called Luxturna ® is a new breakthrough in care for individuals with an inherited retinal dystrophy due to two mutations in the gene RPE65 . (chop.edu)
  • In 2017, a gene therapy called Luxturna was approved by the U.S. Food and Drug Administration for use in children and adults with retinal disease due to two mutations in the gene RPE65 . (chop.edu)
  • AXV101 is an AAV9-based gene therapy targeting retinal dystrophy associated with BBS in patients carrying biallelic mutations in the BBS1 gene. (whnt.com)
  • There are currently 20 retinal genes whose mutations cause the phenotype of LCA, accounting for about 70% of the cases, while the genes underlying the remaining 30% of patients await discovery. (aao.org)
  • For example, patients with mutations in CRB1 , LRAT , CEP290, or RPE65 may have VA better than 20/50 and may actually be diagnosed later in early childhood, and sometimes designated as having early-onset childhood retinal dystrophy or early-onset severe childhood retinal dystrophy, rather than LCA. (aao.org)
  • Cone Rod Dystrophy is an inherited condition, which means it develops due to genetic mutations passed down from parents to their children. (esighteyewear.com)
  • Biallelic mutations in the RPE65 gene are associated with inherited retinal degenerations/dystrophies (IRD) and disrupt the visual cycle, leading to loss of vision. (wustl.edu)
  • Cone-rod dystrophy is a group of related eye disorders that causes vision loss, which becomes more severe over time. (medlineplus.gov)
  • As other retinal disorders, PRA can be divided into either dysplastic disease, where the cells develop abnormally, and degenerative, where the cells develop normally but then degenerate during the dog's lifetime. (wikipedia.org)
  • Macular dystrophies (MDs) consist of a heterogeneous group of disorders that are characterised by bilateral symmetrical central visual loss. (bmj.com)
  • Macular dystrophies (MDs) are a group of inherited retinal disorders that cause significant visual loss, most often as a result of progressive macular atrophy. (bmj.com)
  • Calcific degeneration and endothelial dystrophy are among the disorders representing the degenerative side of the aging eye. (unboundmedicine.com)
  • Jason Comander, MD, PhD , director of the inherited retinal disorders service at Massachusetts Eye and Ear and assistant professor of ophthalmology at Harvard Medical School in Boston, said that although this isn't the first report of children who received VN, the results were "particularly positive. (medscape.com)
  • Differential diagnosis includes other hereditary cone disorders (including achromatopsia and allied cone dysfunction syndromes, cone dystrophy and Stargardt disease) and the rod-cone dystrophy, also known asretinitis pigmentosa, which is distinguished by the sequence of photoreceptor involvement (rod photoreceptors followed by cone photoreceptors). (orpha.net)
  • There has been a recent explosion in interest in gene therapy applications for retinal dystrophies. (leica-microsystems.com)
  • Want to learn more about the surgical techniques for subretinal injection of gene therapy for retinal dystrophies? (leica-microsystems.com)
  • CHICAGO - Children with a rare, inherited retinal disorder who were treated with the first Food and Drug Administration-approved gene therapy had noticeable improvements in vision that may be related to recovery of photoreceptor health, according to a study of six patients in Italy presented at the annual meeting of the American Academy of Ophthalmology. (medscape.com)
  • What type of gene therapy is available for retinal dystrophies? (chop.edu)
  • How does gene therapy for inherited retinal dystrophies work? (chop.edu)
  • Thanks to gene therapy for LCA, a retinal disease that causes blindness, Hannah is seeing the stars. (chop.edu)
  • In preclinical studies, our BBS1 novel gene therapy modified the underlying disease of BBS, including rescuing vision loss by halting retinal degeneration," stated Professor Beales. (whnt.com)
  • A new adenoviral vector-based gene therapy surgically delivered to retinal cells provides normal human RPE65 protein that can restore the visual cycle and some vision. (wustl.edu)
  • Gene Therapy Shows Potential for RPE65-Related Retinal Dystrophy The rare genetic retinal disorder results in severe visual impairment. (medscape.com)
  • Cone Rod Dystrophy (CRD) is a genetic retinal disease that affects people both young and old. (esighteyewear.com)
  • The aim of this review was to provide an update on MDs, including Stargardt disease, Best disease, X-linked r etinoschisis, pattern dystrophy, Sorsby fundus dystrophy and autosomal dominant drusen. (bmj.com)
  • This review provides an update on monogenic MD and discusses the the most common subtypes, including Stargardt disease (STGD), Best disease (BD), X-linked retinoschisis (XLRS), autosomal dominant drusen (ADD), Sorsby fundus dystrophy (SFD) and pattern dystrophy (PD). (bmj.com)
  • Another 2019 study conducted by three ophthalmologists from Kaiser Permanente found that long term use of Elmiron caused retinal damage in 25% of their patients taking an average of 5,000 pills annually over a 15-year period, and that Elmiron toxicity may mimic macular degeneration, pattern dystrophy, and other well-known retinal conditions. (wilentz.com)
  • It is designed to halt photoreceptor cell death and retinal degeneration. (whnt.com)
  • What are intrinsic control mechanisms that lead to photoreceptor cell fate from retinal progenitors? (nih.gov)
  • He is a Vitreoretinal Surgeon and partner at Cincinnati Eye Institute and serves as Director of Pediatric Retinal Surgery and Director of Ophthalmic Genetics at Cincinnati Children's Hospital. (leica-microsystems.com)
  • The patients all had an inherited retinal dystrophy caused by mutation of the biallelic RPE65 gene. (medscape.com)
  • As mentioned, there are many genes that can cause retinal dystrophies, but at this time treatment is only clinically available for RPE65 -related disease. (chop.edu)
  • Luxturna provides a working copy of the RPE65 gene to the retinal cells of the eye. (chop.edu)
  • Voretigene neparvovec -rzyl is now available for the treatment of confirmed biallelic RPE65 mutation-associated retinal dystrophy. (msdmanuals.com)
  • In vitro assays were developed to validate the variants identified (fibroblast assay, induced pluripotent stem cell [iPSC] derived retinal organoids, and a dynein motility assay). (nature.com)
  • Analysis of retinal organoids showed that this new transcript expression increased with organoid differentiation. (nature.com)
  • A team at King's College London, led by Professor Rachael Pearson, are using mini retinas (retinal organoids), which are grown from stem cells in the lab, to develop patches that could recreate a functioning macula. (medicalxpress.com)
  • The fundus appearance is varaible ranging from normal in the early stages, with only subtle temporal optic nerve pallor, macular pigment migration and atrophy or a bull's-eye maculopathy, to peripheral retinal pigment epithelium atrophy, intra retinal pigmentation migration, arteriolar attenuation, and optic disc pallor as disease progresses. (orpha.net)
  • Rod-cone dystrophy with maculopathy in genetic glutathione synthetase deficiency: a morphologic and electrophysiologic study. (umu.se)
  • Other eye damage and side effects linked to Elmiron include diagnoses of retinopathy, retinal maculopathy, retinal pigment epithelium atrophy, and macular retinopathy have also been linked in studies of patients with chronic exposure to Elmiron. (wilentz.com)
  • The study concluded, "a novel and possibly avoidable maculopathy associated with chronic exposure to [Elmiron]," leading the researchers to issue a warning that long-term Elmiron use could lead to retinal damage. (wilentz.com)
  • 4 Hafezi and his colleagues 5 demonstrated that c-fos mRNA is necessary for light-induced apoptotic cell death of photoreceptors in mice, whereas photoreceptor degeneration in rd mice, which is not light-injury related, is c-Fos-independent. (arvojournals.org)
  • Long-term exposure to intense visible light in the blue range adjacent to the UV range may also pose a hazard to retinal photoreceptors and the pigment epithelium, which takes part in the photoreceptor renewal process. (cet.org)
  • Dysfunction or loss of photoreceptors is the primary cause of vision impairment in almost all cases of retinal and macular degeneration. (nih.gov)
  • This project seeks to elucidate transcriptional and post-transcriptional regulatory networks that determine cell fate and guide the development of photoreceptors from retinal progenitor cells. (nih.gov)
  • We are now focused on delineating the transcription factors and signaling pathways that are responsible for generating photoreceptors from retinal progenitor cells. (nih.gov)
  • Although the progression of some forms of macular degeneration can potentially be slowed down if caught early, once the photoreceptors are lost there is no mechanism of getting them back and therefore sight loss caused by these types of conditions is currently irreversible. (medicalxpress.com)
  • The idea of HyVIS arises from the possibility of exploiting residual neuronal functionality to form bionic synapses , made up of state-of-the art nanodevices and retinal neurons that are 'disconnected' from the photoreceptors, to restore their sensitivity to light. (eurekalert.org)
  • Central progressive retinal atrophy (CPRA) is a different disease from PRA involving the retinal pigment epithelium (RPE), and is also known as retinal pigment epithelial dystrophy (RPED). (wikipedia.org)
  • This is a disease with normal rod and cone cell development but late onset degeneration of the rod cells that progresses to the cone cells. (wikipedia.org)
  • Determining the role of DYNC2H1 variants in nonsyndromic inherited retinal disease (IRD). (nature.com)
  • The developments in high-resolution multimodal retinal imaging have also transformed our ability to make accurate and more timely diagnoses and more sensitive quantitative assessment of disease progression, and allowed the design of optimised clinical trial endpoints for novel therapeutic interventions. (bmj.com)
  • It highlights the range of innovations in retinal imaging, genotype-phenotype and structure-function associations, animal models of disease and the multiple treatment strategies that are currently in clinical trial or planned in the near future, which are anticipated to lead to significant changes in the management of patients with MDs. (bmj.com)
  • retinal degeneration, cystic renal disease and polydactyly may be complicating features. (nih.gov)
  • Fovea's high-content platform that allows the identification of new targets involved in photoreceptor degeneration in this disease. (genengnews.com)
  • Further confidence in QR-110's potential to produce meaningful benefits to those living with LCA10, a severe childhood-onset inherited retinal disease causing early vision loss has been published in a highly regarded peer review journal. (retina-international.org)
  • Gene augmentation therapy is a method of ocular gene transfer for autosomal recessive or X-linked retinal dystrophies when there is insufficient functional protein manifesting as genetic disease. (leica-microsystems.com)
  • These include Charcot-Marie-Tooth disease type 2B, 7 forms of dilated cardiomyopathy, 8 both autosomal dominant and autosomal recessive forms of Emery-Dreifuss muscular dystrophy, 9, 10 limb girdle muscular dystrophy type 1B, 11 Dunnigan-type familial partial lipodystrophy, 12- 14 and Hutchinson-Gilford progeria. (bmj.com)
  • Optic atrophy is the final common morphologic endpoint of disease process that causes degeneration of axons of the ganglion cells. (medscape.com)
  • Since AAV is not known to cause human disease and can be tightly controlled (it does not replicate like disease-carrying viruses), it has been the gene delivery method of choice for multiple therapies, including Luxturna for retinal disease. (whnt.com)
  • Dr. Carr's research aims to study the fundamental science of retinal disease to inform the development of targeted and efficient therapies that will make a real difference in patients' lives. (brightfocus.org)
  • In addition, together with Fighting Blindness, it will develop patient-oriented strategies towards greater public awareness and engagement of ciliopathy-related inherited retinal degenerations. (retina-international.org)
  • Approximately 20 of these genes are associated with the form of cone-rod dystrophy that is inherited in an autosomal recessive pattern. (medlineplus.gov)
  • At least 10 genes have been associated with cone-rod dystrophy that is inherited in an autosomal dominant pattern. (medlineplus.gov)
  • Expression of selected retinal marker genes was studied via real-time PCR. (molvis.org)
  • We are doing this study to learn more about variants in people's genes that cause cells in the back of the eye to function incorrectly and lead to a process called "retinal degeneration. (dukehealth.org)
  • Generalized PRA is the most common type and causes atrophy of all the neural retinal structures. (wikipedia.org)
  • Late stage findings include peripheral retinal pigment epithelium atrophy, intraretinal pigment migration, arteriolar attenuation, and optic disc pallor. (orpha.net)
  • Fovea Pharmaceuticals and Genzyme will work together to develop gene therapies for retinal dystrophies. (genengnews.com)
  • In the present era of evolving gene-based therapies for inherited retinal dystrophies (IRDs), it has become increasingly important to verify the genotype in every case, to identify all subjects eligible for treatment. (lu.se)
  • The average optic nerve head is 1 mm deep, 1.5 mm wide, 1.8 mm deep at the retinal level. (medscape.com)
  • Retrograde degeneration - Degeneration starts from the proximal portion of the axon and proceeds toward the optic disc (eg, optic nerve compression by intracranial tumor). (medscape.com)
  • Optic nerve fibers exhibit marked degeneration, with excessive proliferation of glial tissue. (medscape.com)
  • To report the longitudinal clinical course of three Japanese patients from two families with Leber congenital amaurosis/early-onset retinal dystrophy (LCA/EORD), and the results of next-generation DNA sequences on them. (nih.gov)
  • Patients will have frequent follow-up visits with the surgeon and retinal specialist in the initial postoperative period. (chop.edu)
  • After cleared to travel home, patients should have follow-up visits with a retinal specialist at least once a year. (chop.edu)
  • Patients with such risk factors, or those with several family members suffering macular degeneration, should consult an ophthalmologist before using bright light therapy. (cet.org)
  • A follow-up study in 2019 of 10 patients demonstrated similar structural retinal damage from chronic exposure to Elmiron. (wilentz.com)
  • RÉSUMÉ Nous avons évalué les causes des déficiences visuelles et de la cécité chez 694 patients diabétiques ayant consulté dans notre centre des soins oculaires à Sanaa (Yémen) entre 2001 et 2005 en examinant leur dossier médical. (who.int)
  • NOTE: Choroidal neovascularization (and subsequent retinal bleeding) results in about 1 in 5 patients. (acuvisionacupuncture.com)
  • The next section explores CNV secondary to various clinical conditions, such as age-related macular degeneration (AMD), myopia, and less common conditions like choroidal osteoma. (springer.com)
  • A rare genetic isolated inherited retinal disorder characterized by primary cone degeneration with significant secondary rod involvement, with a variable fundus appearance. (orpha.net)
  • Abnormalities in the eye result from a disorder in the retinal pigment epithelium (RPE). (medscape.com)
  • Biallelic variants in the cilia gene DYNC2H1 have been associated with two severe ciliopathies: Jeune asphyxiating thoracic dystrophy (JATD, MIM 613091) and short-rib polydactyly (SRP, MIM 613091) with only four documented cases of associated complex early retinal degeneration at ages 2 months, and 2, 5, and 11 years old. (nature.com)
  • Age-related macular degeneration is the most common cause of permanent and severe sight loss in the UK, with approximately 1.2 million people having the condition in its early stages and 700,000 people living with late stage age-related macular degeneration in the UK. (medicalxpress.com)
  • There are more than 30 types of cone-rod dystrophy, which are distinguished by their genetic cause and their pattern of inheritance: autosomal recessive, autosomal dominant, and X-linked. (medlineplus.gov)
  • Immunohistochemical analysis showed decreased levels of rhodopsin and postsynaptic density protein-95 (PSD-95) proteins and increased levels of glial fibrillary acidic protein (GFAP), vascular endothelial growth factor (VEGF), and calretinin in WNIN/GR-Ob rats compared with the age-matched lean controls, further supporting cellular stress/damage and retinal degeneration. (molvis.org)
  • These findings suggest that treatment with VN halts photoreceptor degeneration, with a partial recovery of retinal morphology, particularly in the perifoveal area," Testa said. (medscape.com)
  • The specific causes of visual impairment vary greatly with age, however, unavoidable retinal pathologies were the predominant causes at all ages. (who.int)
  • For those aged 18-50 years, retinal dystrophies (37%), congenital eye anomalies (14%) and myopic degenerations (13%) were the most common causes. (who.int)
  • The first signs and symptoms of cone-rod dystrophy, which often occur in childhood, are usually decreased sharpness of vision (visual acuity) and increased sensitivity to light (photophobia). (medlineplus.gov)
  • Additionally, cone-rod dystrophy can occur alone without any other signs and symptoms or it can occur as part of a syndrome that affects multiple parts of the body. (medlineplus.gov)
  • Cone-rod dystrophy is estimated to affect 1 in 30,000 to 40,000 individuals. (medlineplus.gov)
  • The progressive degeneration of these cells causes the characteristic pattern of vision loss that occurs in people with cone-rod dystrophy. (medlineplus.gov)
  • Rod-cone dystrophy has signs and symptoms similar to those of cone-rod dystrophy. (medlineplus.gov)
  • However, rod-cone dystrophy is characterized by deterioration of the rods first, followed by the cones, so night vision is affected before daylight and color vision. (medlineplus.gov)
  • Rarely, cone-rod dystrophy is inherited in an X-linked recessive pattern . (medlineplus.gov)
  • Cardigan Welsh Corgi Norwegian Elkhound - Characterized by dysplasia of the rod cell unit and subsequent degeneration of the cone cell unit. (wikipedia.org)
  • This three year project thus aims to increasing understanding of Rab28 and potential role in cone-rod dystrophy. (retina-international.org)
  • Cone rod dystrophy (CRD) is characterized by primary cone involvement or, occasionally, by concomitant loss of both cones and rods, explaining the predominant symptoms of CRDs: decreased visual acuity, color vision defects, photoaversion and decreased sensitivity in the central visual field, later followed by progressive loss in peripheral vision and night blindness. (orpha.net)
  • In this article, you will learn about Cone Rod Dystrophy diagnosis, symptoms, risks, and treatments, including some novel studies and technologies at the frontier of CRD. (esighteyewear.com)
  • This is in contrast to types of Cone Rod Dystrophy, where the cone is first to degenerate. (esighteyewear.com)
  • For her postdoctoral studies, Dr. Carr established two frog models of cone-rod dystrophy and macular degeneration and is now using one of those animal models to search for biomarkers and early indicators of age-related macular degeneration. (brightfocus.org)
  • This solution will represent a potential technological breakthrough compared to existing retinal prostheses. (eurekalert.org)
  • But IIT will not be the only Institute to contribute with its expertise in retinal prosthetics: indeed, HyVIS brings together some of the most important European research groups in this field, which have contributed to the development of prostheses already approved for clinical purposes. (eurekalert.org)
  • Glen of Imaal Terrier - CRD3 results in gradual blindness with onset around 4 years of age (often detectable as retinal thinning as early as 3 years of age). (wikipedia.org)
  • It is designed to halt retinal degeneration, which begins in childhood leading to blindness before 20 years of age. (whnt.com)
  • These developments have the potential to completely revolutionize the way we treat a wide-range of conditions, and these are especially exciting because of the devastating consequences of type-1 diabetes and age-related macular degeneration, a common cause of blindness among seniors. (acsh.org)
  • The revolutionary retinal neuroprosthesis proposed by HyVIS will not only have a strong social return, proposing a new therapeutic strategy for degenerative blindness and thus improving the quality of life of people affected by retinal dystrophies, but also a significant impact on the economy and public health systems, representing an economic and market innovation. (eurekalert.org)
  • Revised epidemiological analyses suggest that BBS affects between 1 in 70,000 - 1 in 100,000 in Europe and North America, and there is no treatment for the retinal degeneration. (whnt.com)
  • This research has been extended to include how aging affects retinal and photoreceptor function. (nih.gov)
  • The retinal morphology and ultrastructure of WNIN/GR-Ob and age-matched littermate lean rats were studied by microscopy and immunohistochemistry. (molvis.org)
  • V4, a novel missense variant, was in trans with V5, previously associated with Jeune asphyxiating thoracic dystrophy (JATD). (nature.com)
  • Any damage to retinal neurons can have devastating consequences, including loss of vision. (nih.gov)
  • HyVIS - explains Elisabetta Colombo , project coordinator and researcher at the IIT Center for Synaptic Neuroscience and Technology, directed by Fabio Benfenati and located at the IRCCS hospital Policlinico San Martino in Genoa - will make it possible to restore the physiological activation of inner retinal neurons with very high spatial resolution. (eurekalert.org)
  • At CHOP, your child has access to a dedicated care team, including ophthalmologists, ophthalmic geneticists, a retinal surgeon and a genetic counselor - all of whom have experience diagnosing and caring for children with inherited retinal conditions and their families. (chop.edu)