Abstract: Diabetic retinopathy (DR) remains a leading cause of irreversible vision loss in adult populations around the globe. Despite growing evidence of the effectiveness of routine assessments and early intervention, DR screening strategies are not widely implemented largely due to an inadequate availability of resources to cope with the growing burden of diabetes. Advances in technology in the field of DR screening are clearly warranted and the recent emergence of deep learning-based artificial intelligence (AI) grading of retinal pathology offers significant potential benefits including an increased efficiency, accessibility and affordability of screening programmes.
Abstract: Four challenging and unusual retinal cases: (I) 11-year follow-up for retinal hemangioblastoma with von Hippel-Lindau (VHL) disease; (II) treatment for central serous chorioretinopathy (CSC)—observation, half does photodynamic therapy (PDT) or micropulse laser photocoagulation; (III) diagnosis and treatment for a child with optic nerve defect; (IV) the optional treatment for retinal detachment (RD) with iridolenticular choroidal coloboma, were presented and discussed by three international retinal specialists at a retinal clinical round in Fundus Diseases Center of Zhongshan Ophthalmic Center (ZOC). The discussion helps us a better understanding of the pathogenesis and managements of these four retinal diseases and their association with systemic conditions.
Abstract: The disease burden of diabetic retinopathy (DR) is tremendous around the world. While DR is correlated with hemoglobin A1c (HbA1c) and duration of diabetes, genetic differences likely account for variation in susceptibility to DR. DR is a polygenic disorder with demonstrated heritability. However, linkage and admixture analyses, candidate gene association studies, and genome-wide association studies (GWAS) have not identified many loci for DR that can be consistently replicated. Larger, collaborative, multi-ethnic GWAS are needed to identify common variants with small effects. Rigorous defining of controls groups as patients with a long duration of diabetes without DR, and case groups as patients with severe DR will also aid in finding genes associated with DR. Replication in independent cohorts will be key to establishing associated loci for DR. Investigations of mitochondrial DNA and epigenetics in DR are ongoing. Whole exome sequencing presents new opportunities to identify rare variants that might be implicated in DR development. Continued research in the genetic epidemiology of DR is needed, with the potential to elucidate pathogenesis and treatment of an important disease.
Abstract: Primary vitreoretinal lymphoma (PVRL), as a subset of primary central nervous system lymphoma (PCNSL), is a rare and fatal ocular malignancy. Most PVRL masquerades as chronic posterior uveitis, which makes the clinical diagnosis challenging. Vitreous cells, subretinal lesions and imaging techniques are essential for clinical diagnosis. Importantly, cytopathology/histopathology identification of malignant cells is the gold standard for the diagnosis of PVRL. In addition, molecular detection of immunoglobulin heavy chain (IgH) or T cell receptor (TCR) gene rearrangements, immunophenotyping for cell markers, and cytokine analysis of interleukine-10 elevation are often used as adjunct procedures. Current management of PVRL involves local radiation, intravitreal chemotherapy (methotrexate and rituximab), with or without systemic chemotherapy depending on the involvement of non-ocular tissues. In cases with concomitant PCNSL, systemic high-dose methotrexate/rituximab based therapy in conjunction with local therapy, whole brain radiotherapy and/or autologous stem cell transplantation is considered. Although PVRL normally responds well to initial treatment, high rates of relapse and CNS involvement usually lead to poor prognosis and limited survival. A professional team of medical experts in ophthalmologists, ocular pathologists, neuro-oncologists and hemato-oncologists is essential for optimizing patient management.
Background: To evaluate efficacy and safety of combined pars plana vitrectomy (PPV) and scleral fixated intraocular lens (SFIOL) surgery as a single procedure.
Methods: Retrospective interventional case series done at a tertiary eye care center in Northern India. Eleven patients who underwent combined PPV and SFIOL surgery were included and analyzed retrospectively.
Results: Mean age of the patients was 43.36±15.12 years (range, 22–64 years). Eight were male. Mean baseline best corrected visual acuity (BCVA) was 0.78±0.63 logMAR units while the mean post-operative BCVA at 6 months follow-up was 0.37±0.29 logMAR units, the visual gain being statistically significant (P=0.021). None of the patients had a drop in BCVA with nine patients having final BCVA better than 0.48 logMAR units. Choroidal detachment (CD) was the only notable complication, seen in three patients. Other complications included two cases of intraoperative retinal breaks, a case each of reversible corneal edema, ocular hypertension and cystoid macular edema.
Conclusions: Combined PPV and SFIOL is an efficacious procedure for managing IOL/lens dislocation and aphakia in a single surgery. There may be short-term reversible complications with no impact on final visual gain.
Abstract: Retinal angiogenic diseases, such as diabetic retinopathy (DR) and age-related macular degeneration (AMD) represent the leading causes of vision impairment in developed countries. There is strong evidence that dysregulated metabolic pathways contribute to DR as known risk factors do not explain all cases and the phenomenon of metabolic memory persists for decades or longer. Some early studies also showed that changes of plasma metabolic profiles are associated with AMD. Metabolic abnormalities can be explored using the techniques of the new science of metabolomics. In this presentation, several metabolomics workflows as well as the application of data independent acquisition mass spectrometry (DIA-MS) in metabolomics will be discussed. Our recent findings from metabolomics studies on DR and AMD will be presented.
Abstract: Vision loss in retinal disease is often secondary to neural cell loss. Neural loss of any type including that of the retina has always been considered irreversible as these cells rarely retain the ability to regenerate. The recent identification of stable stem cell sources and the advances in stem cell technology have transformed this area of research science into an important area of strong therapeutic possibility. These sources include human embryonic stem cells (hESC), induced pleuripotent stem cell sources (iPS) as well as adult sources. The main advantage of using a stem cell source is that there is an infinite capacity to reproduce and therefore an infinite capacity to produce cells, including neural cells for transplantation. The challenge more recently has been to transform these stem cells into differentiated cells that are useful for transplantation in disease. In terms of the retina, hESC have been successfully developed into retinal pigment epithelial cells. These cells have been characterised as identical to native human RPE cells structurally, functionally and biochemically. Previous studies of macular translocation and RPE/choroidal transplantation have shown that vision loss from AMD can be reversed. Early animal studies show that the transplanted HESC RPE survive and can prevent vision loss in animal models of disease. Initial hESC based RPE transplantation trials using suspension cultures were successful in demonstrating safety of the cells in the context of disease and sub-retinal delivery. More recently, we have carried out the first 2 transplantations of sheets of hESC based RPE on a coated artificial Bruch’s membrane, in the London Project’s RPE transplantation trial, with promising results. As well as RPE— Bruch’s transplantation I will also briefly discuss the recent advances in neuro-retinal and vascular reconstructions using stem cells.
Abstract: Blinding diseases such as photoreceptor degenerations are debilitating conditions that severely impair daily lives of affected patients. This group of diseases are amenable to photoreceptor replacement therapies and recent transplantation studies provided proof-of-principle for functional recovery at the retinal and behavioral level, though the actual mechanism of repair still needs further investigations. The immune system responds in several ways upon photoreceptor engraftment, resulting in T-cell and macrophage infiltrations and, consequently, decrease in graft survival. Most studies on the role of the immune system suggest a detrimental effect in a therapeutic setting. Conversely, the opposite idea wherein the immune system can be activated towards a protective state was also explored in other experimental paradigms. Here, Neves and colleagues explored the potential of cross-species studies and, to a certain extent, the concept of a protective immune system in retinal degeneration and therapy. Mesencephalic astrocyte-derived neurotrophic factor (MANF) was identified in this study as a novel factor that, by modulating the immune system, can slow down photoreceptor degeneration and improve transplantation outcome.
