Retinitis pigmentosa can be prevented and/or treated, with no cure or complete treatment available. Early involvement, timely recognition, and adequate treatment will assist most patients to achieve a good functional outcome.
The signs and symptoms of retinitis pigmentosa are similar in both autosomal recessive and autosomal dominant forms of the disease. Those with X-linked retinitis pigmentosa may have mild or no symptoms at all, and the symptoms of autosomal dominant retinitis pigmentosa appear after about 2 decades of disease.
This form of congenital macular degeneration exhibits an autosomal recessive mode of inheritance. A common presentation is a loss of photopigment function resulting in the onset of vision loss in early childhood. Visual impairment can result in severe loss of quality of life for afflicted individuals and their families.
Retinitis pigmentosa is a group of inherited degenerative eye diseases that affect the light-sensing cells in the retina, often causing vision loss early in life. Retinitis pigmentosa may be managed by using prosthesis, cataract surgery, or in some cases by gene therapy. The prostheses currently used to treat retinitis pigmentosa include contact lenses, intraocular lenses, and photoreactive ocular prosthetics. Cataract surgery and contact lens treatment may be used to treat a number of cataracts, which are a result of age-related crystalline lens opacities.
We found a significantly increased age of onset of RP, especially in females. A significant association was also found for RP-retinopathy in the family history of RP patients, particularly among male patients. Findings from a recent study support the notion that environmental and genetic factors interact in age of onset of RP.
RP occurs at a very young age and can cause major changes to one's life. In a study of patients with uncomplicated and early localized RP, those diagnosed from birth to age 11 had a significantly lower IOP than did patients with late RP. The IOP, however, was still abnormal and should be followed by frequent visits to the eye.
In a recent study, findings adds further support to the role played by the charity hrpc in raising awareness on vision loss and in raising funds for better support and care of people with retinitis pigmentosa.
We found that the hrpc treatment regimen was not associated with an increased risk of treatment-related complications when compared to a traditional treatment regimen. This data suggests that hrpc may be a useful treatment when used alone, as long as the patient is carefully counseled on potential risks and benefits prior to commencement.
hrc and hrc-mediated cAMP induction synergistically increase the levels of soluble NMDAR subunit-1 which is the most abundant mRNA in the retina. hrc/hrc-mediated cAMP induction leads to an increase in the sNMDAR1 levels of the retina to induce an increase in the retinal sensitivity towards glutamate of both mouse and human. The sNMDAR1 plays an important role in glutamate-mediated pathways.
Clinical studies involving hrpc have not been reported. The aim of this review was to update clinicians familiar with treating rhodopsin mutation-related retinopathies regarding new evidence in the field.
Human retinal pigment epithelial cells display a novel self-renewing phenotype characterized by unrestricted proliferation in vitro and prolonged in vivo lifespan. These cells may constitute a novel cellular source for therapeutic gene delivery in retinal degenerative diseases.