Rod-cone dystrophy is the most common form of inherited degenerative disease affecting the retina of the eye. Signs include scotomas, macular changes and neovascularization. These may be seen even as children in the first decade of their lives.
Rod-cone dystrophy is a rare retinal degenerative disease of the retina, with no known curative treatment but that can be identified at an early stage, usually in childhood. It affects both eyes at the same time, causing a progressive loss of vision.
The number of people who have rod-cone dystrophy in the United States is estimated to be over 400,000 per year. The disease is common in Americans of European extraction who originate from regions where it is prevalent and is more common among black Americans who have African ancestry.
The cause of the degeneration is unknown but the disease manifests itself based on the genetic pattern of inheritance, including one autosomal recessive form with two genes, one of which is a G-protein-coupled receptor. This suggests it is a genetic disorder due to a mutation in a gene or a combination of several genes. The disease is also associated with environmental factors such as trauma to the central retina. Since the onset of disease is associated with a decrease in retinal ganglion cells it is most likely an inherited disease. Further analysis of the genes, specifically GPR-alpha, will provide evidence how the disease manifests and develops over time.
Treatment is directed toward the specific manifestations of the disease. For retinal disease there are therapies that optimize photoreceptor survival, and treatments to prevent new loss of visual function. For central vision disease, treatment is directed toward prevention of blindness from choroid neovascularization or loss of central vision due to choroid scarring. For color vision loss, treatment directed at the loss of peripheral color vision and/or prevention of new vision loss due to foveal loss. Treatment is directed at the preservation of peripheral vision by minimizing or eliminating choroid neovascularization secondary to increased intraocular pressure.
The data suggest that the functional and structural defects of RCD are not amenable to treatment. This may be of concern during discussions with potential patients and families.
The loss of dark- and central-foveal retinal function in patients with RCD can be severe. In order to provide an appropriate management of these patients, it is important to understand the course of their dark-, foveal-, and central-retinal function in order to provide a tailored and appropriate medical and surgical care.
There are 4 types of clinical heterogeneity among these 4 cases and the symptoms of each patient might change from individual to individual and from patient to patient in the long term.
We found 3 patterns of functional motility abnormalities that were related to different degrees of disease severity. The prevalence and heterogeneity of these functional abnormalities suggests a significant role for FMs in the generation and propagation of PPCD. This reinforces our original hypothesis that FMs are primary events in the pathophysiology of this disease.
When used in combination with glasgow prisms or with vision therapy, the Vr tool is a valuable and valid tool in the management of amblyopia.
Vr motility tool can assess objectively the degree of functional motility in patients with RP and DCD. The use of Vr motility tool can be considered for the clinic assessment of the patients with RP and DCD.
The VR™ motility test did not cause damage to the surrounding tissue around the tip of the tip, or in the rest of the eye of patients. The VR™ motility test could be used in patients at risk of complications from surgeries to the eye or to access some areas of the central nervous system, such as the brain. In these patients, the VR™ motility test may be performed prior to the surgery and can be performed either in the operating room or in an outpatient clinic.