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Prevalence and pattern of retinal diseases at the Guinness Eye Hospital, Onitsha, Nigeria.

OBJECTIVES: To determine the prevalence and pattern of retinal diseases at the Guinness Eye Hospital, Onitsha, Nigeria. MATERIALS AND METHODS: This was a prospective study. All new patients seen by the author at the outpatients clinic of the Guinness Eye Hospital, Onitsha, Nigeria were examined for evidence of retinal diseases, using the Snellen chart, tonometry, indirect ophthalmoscopy after full mydriasis, slit-lamp examination with a 78D non-contact fundus lens, fundus contact lens examination, and slit-lamp examination of the anterior segment. Ancillary tests performed, as applicable, inc…

Pathological studies on the intracerebral and retinal arteries in cerebrovascular and noncerebrovascular diseases.

Histological examinations of the intracerebral and retinal arteries were preformed in patients who had cerebrovascular disease and in those cases who did nott. Fibrinoid degeneration, fibrous nodule, and splitting, which are most frequently found in putamen, thalamus and pons, are thought to be the main changes in cerebral hemorrhage and infarction. Fibrous and fibro-hyalinoid thickenings of the retinal arteries were found mainly in the neighboring region of the optic disk, which reflects the changes of the intracerebral arteries. Hyalinoid thickening was found in the ora serrata, which does n

Retinal prolactin isoform PRLΔE1 sustains rod disease in inherited retinal degenerations.

PRLΔE1, a retina-specific isoform of prolactin, is expressed in multiple and diverse forms of canine inherited retinal degeneration (IRD). We find that while PRLΔE1 expression in rods is not associated with the initial phase of disease characterized by acute photoreceptor cell death, it is associated with the protracted phase of slow cell loss. Restoration of photoreceptors to a healthy state by gene-specific replacement therapy of individual IRDs successfully suppresses PRLΔE1 expression. Moreover, short-term PRLΔE1 silencing using shRNA results in preservation of outer nuclear layer thicknes

Recent Progress in Retinal Pigment Epithelium Cell-Based Therapy for Retinal Disease.

Age-related macular degeneration and retinitis pigmentosa are degenerative retinal diseases that cause severe vision loss. Early clinical trials involving transplantation of retinal pigment epithelial cells and/or photoreceptors as a treatment for these conditions are underway. In this review, we summarize recent progress in the field of retinal pigment epithelium transplantation, including some pertinent clinical trial results as well as preclinical studies that address issues of transplant immunology, cell delivery, and cell manufacturing.

Retinal Vascularity Index in Parkinson's Disease.

PURPOSE: To assess differences in retinal vascularity index (RVI) between individuals with Parkinson's disease (PD) and controls to explore RVI as a potential retinal biomarker of PD. DESIGN: Cross-sectional case-control study. PARTICIPANTS: One hundred sixty-eight eyes of 108 PD participants and 115 eyes of 71 control participants in the Eye Multimodal Imaging in Neurodegenerative Disease Study. METHODS: Ultra-widefield (UWF) retinal color photographs were acquired in each participant using scanning laser ophthalmoscopy (California, Optos). Images were analyzed using a semiautomated softwa

Retinal Neurovascular Signatures in Parkinson's Disease.

PURPOSE: This study aimed to investigate retinal neurovascular signatures in patients with Parkinson's disease (PD) using multimodal neurovascular imaging. METHODS: Fifteen patients with clinically diagnosed PD and eighteen age-matched healthy controls (HC) controls were recruited. Retinal blood flow (RBF) was measured using a retinal function imager. Retinal vessel density (RVD), retinal vessel length density (RVLD), and corresponding retinal tissue volume (RTV) were assessed using optical coherence tomography angiography. Retinal tissue perfusion (RTP) was computed as RBF normalized by RTV

Fish Models of Ageing Retinal Disease.

Age-related macular degeneration (AMD) is a common cause of vision loss with few effective treatments available to prevent retinal degeneration long-term. Challenges associated with treatment development are due in part to a lack of understanding of the mechanisms underlying disease onset. However, diseases of ageing are challenging to model. Here, features of diurnal fish models that are beneficial for studying ageing retinal diseases are highlighted, and the unique characteristics of ageing zebrafish, turquoise killifish, and medaka retinas are summarised.

Inherited retinal disease-associated uveitis.

Inherited retinal diseases (IRDs) are genetic disorders characterized by progressive photoreceptor function loss, often leading to significant visual impairment. Uveitis has been increasingly recognized in the clinical course of some IRDs. Despite advances in understanding the genetic causes and pathophysiology of IRDs, gaps remain in understanding the roles of inflammation and autoimmunity in IRD and IRD-associated uveitis. This review discusses IRD-associated uveitis, including anterior, intermediate, posterior, and panuveitis, as well as complications such as cystoid macular edema and retin…

Refractive Error in Inherited Retinal Disease.

PURPOSE: Inherited retinal dystrophies (IRDs) lead to significant vision impairment. Refractive errors (REs) are also associated with vision impairment and an increased risk of ocular comorbidities and may compound impairment caused by IRDs. Identifying the pattern of RE in IRDs may assist in better management of patients with IRD and provide insights into understanding genetic associations with RE. The aim of this study was to investigate the patterns of RE in patients with IRD from three academic ophthalmology referral centers. DESIGN: Retrospective multicenter cohort study. METHODS: Chart

Inner retinal thickness in Stargardt disease.

PURPOSE: To analyze the alterations at the level of the inner retina in patients affected by Stargardt disease (STGD1). METHODS: Cross-sectional investigation involving STGD1 patients with genetically confirmed diagnosis, who underwent optical coherence tomography (OCT), optical coherence tomography angiography (OCTA), and microperimetry. RESULTS: Overall, 31 patients (62 eyes) with genetically confirmed STGD1 were included in the study. Mean inner retinal thickness, vessel density of plexa, and retinal sensitivity resulted significantly reduced in STGD patients, compared with healthy contro

Animals Models of Inherited Retinal Disease.

Inherited retinal diseases (IRDs) are an important cause of blindness worldwide. Over 270 genes have been associated with IRD. Genetic testing can determine the cause of the clinical disease in the majority of patients. However, at least 25-50% of patients with clinical diagnosis of IRD remain unsolved even after whole genome sequencing. Animal models of IRD can be useful for expanding the set of established IRD genes, to gain biological understanding of the function of these genes in the retina, and to test advanced therapeutics prior to human clinical trials. In this chapter some small and l…

Retinal alterations in patients with Lafora disease.

PURPOSE: Lafora disease is a genetic neurodegenerative metabolic disorder caused by insoluble polyglucosan aggregate accumulation throughout the central nervous system and body. The retina is an accessible neural tissue, which may offer alternative methods to assess neurological diseases quickly and noninvasively. In this way, noninvasive imaging may provide a means to characterize neurodegenerative disease, which enables earlier identification and diagnosis of disease and the ability to monitor disease progression. In this study, we sought to characterize the retina of individuals with Lafora

RETINAL DYSTROPHY IN A PATIENT WITH McARDLE DISEASE.

PURPOSE: To report a case of pattern dystrophy in a patient with McArdle disease, a rare autosomal recessive disorder of glycogen metabolism. METHODS: Case report. RESULTS: A 29-year-old woman with a history of muscle biopsy-confirmed McArdle disease presented with fundus findings consistent with pattern dystrophy. Multimodal imaging, including optical coherence tomography and fundus autofluorescence, was performed. CONCLUSION: To our knowledge, this is the third reported case of pattern dystrophy in a patient with McArdle disease.

Galectins in the Pathogenesis of Common Retinal Disease.

Diseases of the retina are major causes of visual impairment and blindness in developed countries and, due to an ageing population, their prevalence is continually rising. The lack of effective therapies and the limitations of those currently in use highlight the importance of continued research into the pathogenesis of these diseases. Vascular endothelial growth factor (VEGF) plays a major role in driving vascular dysfunction in retinal disease and has therefore become a key therapeutic target. Recent evidence also points to a potentially similarly important role of galectins, a family of β-g

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… TABLE 1 Clinical and biological features of retinal diseases and confirmed galectin involvement. See main text for additional information. … During retinal disease, microglia and retinal astrocytes are chronically activated and secrete IL-6, MCP-1 and VEGF. …

A connectomics approach to understanding a retinal disease.

Macular telangiectasia type 2 (MacTel), a late-onset macular degeneration, has been linked to a loss in the retina of Müller glial cells and the amino acid serine, synthesized by the Müller cells. The disease is confined mainly to a central retinal region called the MacTel zone. We have used electron microscopic connectomics techniques, optimized for disease analysis, to study the retina from a 48-y-old woman suffering from MacTel. The major observations made were specific changes in mitochondrial structure within and outside the MacTel zone that were present in all retinal cell types. We also

Metabolomics in the study of retinal health and disease.

Metabolomics is the qualitative and quantitative assessment of the metabolites (small molecules < 1.5 kDa) in body fluids. The metabolites a … een increasing interest and research in metabolomics of the eye, the application of metabolomics to retinal diseases has been limited, even though these are leading causes of blindness. In this manuscript, we perform a comprehensive summary of the tools and knowledge required to perform a metabolomics study, and we highlight essential statistical methods for rigor …

Anti-angiogenic Therapy for Retinal Disease.

Recent breakthroughs in our understanding of the molecular pathophysiology of retinal vascular disease have allowed us to specifically target pathological angiogenesis while minimizing damage to the neurosensory retina. This is perhaps best exemplified by the development of therapies targeting the potent angiogenic growth factor and vascular permeability mediator, vascular endothelial growth factor (VEGF). Anti-VEGF therapies, initially introduced for the treatment of choroidal neovascularization in patients with age-related macular degeneration, have also had a dramatic impact on the manageme

Retinal vasculature development in health and disease.

Development of the retinal vasculature is based on highly coordinated signalling between different cell types of the retina, integrating internal metabolic requirements with external influences such as the supply of oxygen and nutrients. The developing mouse retinal vasculature is a useful model system to study these interactions because it is experimentally accessible for intra ocular injections and genetic manipulations, can be easily imaged and develops in a similar fashion to that of humans. Research using this model has provided insights about general principles of angiogenesis as well as

Evidence for Telemedicine for Diabetic Retinal Disease.

According to current projections, the number of Americans with diabetes mellitus will increase from 27.8 million in 2007 to 60.7 million in 2030. With the increasing gap between demand for eye care and supply of ophthalmologists and optometrists, and the non-uniform distribution of eye care providers in US counties, barriers to eye examinations will likely increase. Telemedicine assessment of diabetic retinal disease through remote retinal imaging and diagnosis has the potential to meet these growing demands. To establish evidence for a telemedicine program as an effective modality for diabeti

Constitutively active rhodopsin and retinal disease.

Rhodopsin is the light receptor in rod photoreceptor cells of the retina that initiates scotopic vision. In the dark, rhodopsin is bound to … titutive activity can arise in rhodopsin by various mechanisms and can cause a variety of inherited retinal diseases including Leber congenital amaurosis, congenital night blindness, and retinitis pigmentosa. In this review, the molecular and structural properties of different constitutively active forms of rhodopsin are overviewed, and the possibility that consti …