Visual impairment is a significant factor that contributes to the loss of well-being in the human population. Two common forms of retinal degeneration are retinitis pigmentosa and macular degeneration. Retinitis pigmentosa (RP) affects approximately 1.5 million people worldwide. Over 3,000 mutations in at least 50 genes in rod photoreceptors are associated nonsyndromic RP causing autosomal dominant, recessive and X-linked disease. This extensive number of mutations causing different forms of RP makes it difficult to design gene therapies that would be effective for slowing or preventing RP in a significant number of patients especially those with dominant forms of the disease. Therefore, alternative therapies that may slow degeneration or protect cellular processes affected by these mutations to slow or inhibit disease progression are a subject of critical investigation.
The most common retinal disease among the aging population is age-related macular degeneration (AMD), accounting for approximately 8.7% of blindness worldwide. Both genetic and environmental factors are thought to contribute to progressive loss of central vision. An early form of AMD, known as dry AMD, makes up approximately 90% of the cases. Blood pressure, racial background, a history of cataract surgery and smoking enhance the likelihood of developing dry AMD with prevalence being higher in white people that those of other racial backgrounds. Body mass index, a history of cardiovascular disease, hypertension and increased plasma fibrinogen are also associated with AMD. To date, no therapy for dry AMD exists. Patients are advised to refrain from exposure to smoke and UV light and to take anti-oxidant supplements. Wet AMD, considered a later stage of AMD, occurs in approximately 10% of patients with dry AMD. Patients experience neovascularization and the formation of drusen in the central (macular area) of vision. Drusen is composed of proteins, lipids and carbohydrates that form pale yellow processes between the RPE and the choroid reducing access to nutrients by the RPE and the release of wasted products. Oxidative stress results from a decrease in glutathione levels, vitamin A and catalase activity is factors in degeneration. Existing therapies include those that reduce VEGF and PDGF levels, which appear to be involved in fibrosis and angiogenesis.
Submissions should focus on newly discovered mechanisms involved in the development of these two visual diseases or other closely related disorders, technical methods to investigate disease progression, newly discovered genetic and environmental factors as well as novel potential therapeutic interventions to delay or prevent their development. These submissions may include original research articles, reviews and clinical case studies.
Visual impairment is a significant factor that contributes to the loss of well-being in the human population. Two common forms of retinal degeneration are retinitis pigmentosa and macular degeneration. Retinitis pigmentosa (RP) affects approximately 1.5 million people worldwide. Over 3,000 mutations in at least 50 genes in rod photoreceptors are associated nonsyndromic RP causing autosomal dominant, recessive and X-linked disease. This extensive number of mutations causing different forms of RP makes it difficult to design gene therapies that would be effective for slowing or preventing RP in a significant number of patients especially those with dominant forms of the disease. Therefore, alternative therapies that may slow degeneration or protect cellular processes affected by these mutations to slow or inhibit disease progression are a subject of critical investigation.
The most common retinal disease among the aging population is age-related macular degeneration (AMD), accounting for approximately 8.7% of blindness worldwide. Both genetic and environmental factors are thought to contribute to progressive loss of central vision. An early form of AMD, known as dry AMD, makes up approximately 90% of the cases. Blood pressure, racial background, a history of cataract surgery and smoking enhance the likelihood of developing dry AMD with prevalence being higher in white people that those of other racial backgrounds. Body mass index, a history of cardiovascular disease, hypertension and increased plasma fibrinogen are also associated with AMD. To date, no therapy for dry AMD exists. Patients are advised to refrain from exposure to smoke and UV light and to take anti-oxidant supplements. Wet AMD, considered a later stage of AMD, occurs in approximately 10% of patients with dry AMD. Patients experience neovascularization and the formation of drusen in the central (macular area) of vision. Drusen is composed of proteins, lipids and carbohydrates that form pale yellow processes between the RPE and the choroid reducing access to nutrients by the RPE and the release of wasted products. Oxidative stress results from a decrease in glutathione levels, vitamin A and catalase activity is factors in degeneration. Existing therapies include those that reduce VEGF and PDGF levels, which appear to be involved in fibrosis and angiogenesis.
Submissions should focus on newly discovered mechanisms involved in the development of these two visual diseases or other closely related disorders, technical methods to investigate disease progression, newly discovered genetic and environmental factors as well as novel potential therapeutic interventions to delay or prevent their development. These submissions may include original research articles, reviews and clinical case studies.