Patient's question:
Is there a good medical treatment for retinitis pigmentosa? Low vision and narrow field of vision, more than thirty years, is it too late for treatment now, vision is less than 0.1.Doctor's answer:
Retinitis Pigmentosa is one of the serious eye diseases causing blindness today. Statistics from the American ophthalmology community show that in the age group of 20-40, retinitis pigmentosa is the leading cause of blindness. According to rough estimates, there are approximately 1.5 million patients with retinitis pigmentosa worldwide. This alarming number is not decreasing year by year but rather increasing day by day. Is this not enough to draw the attention of the world?! In the early stages of retinitis pigmentosa, only nyctalopia (night blindness) occurs, which does not affect work, study, or normal life at all. However, the disease gradually destroys vision without the patient being aware of it. This is especially true for children in their early years, making early detection even more difficult. The retina is a highly sophisticated, functionally complex structure that cannot be observed with the naked eye. In 1851, Helmholtz invented the ophthalmoscope, which revealed the fundus changes of retinitis pigmentosa. Despite this, treatment remained a distant possibility. It was not until the 1970s that retinitis pigmentosa began to attract attention in developed Western countries. In China, this disease was discovered in the early Qing Dynasty and was then known as "night blindness cataract." The name is apt and appropriately describes the disease, as it also reflects the principles of dialectical treatment, such as strengthening the spleen and boosting qi, combined with herbal formulas to (dissipate liver qi and activate blood circulation), acupuncture, massage, qigong, and tonic medications. Some of these formulas are still in use today. Medical genetics is a major component of human genetics and an interdisciplinary field that combines genetics and medicine. By exploring the relationship between human diseases and genetic factors, it provides a scientific basis for the diagnosis, treatment, and prevention of genetic diseases, thereby contributing to the improvement of human quality. With the continuous advancement of medicine and the improvement of people's living standards, most infectious diseases have been controlled, and some have even disappeared. However, chronic, non-infectious diseases have gradually increased, becoming a prominent issue in modern medicine. To date, people have recognized over 5,000 types of genetic diseases, which pose a significant threat to human life and health. However, with the rapid development of modern high-tech, basic medical research, particularly in immunology, molecular biology, and genetics, has advanced in depth and breadth. Among these, cytogenetics and molecular genetics, which conduct research at the cellular and molecular levels, have developed rapidly, making genetic diagnosis and treatment of some genetic diseases more feasible. For example, cells can be taken from the patient's body, genetically modified, and then re-injected to artificially alter abnormal genes, thereby achieving the prevention and treatment of genetic diseases. A research institution at Boston University in the United States has injected a gene that controls the secretion of vascular endothelial growth factor, which can guide the body to grow new blood vessels. The achievements in molecular genetics research and the manipulation of human gene combinations have made it possible to treat diseases using recombinant DNA technology. Although this genetic engineering is still in the exploratory and experimental stage, it is hoped that within a few years, the DNA sequences of 100,000 genes on the human genome will be clarified, and a complete human genome map—the blueprint of life—will be drawn. It is believed that this is a measure with both directionality and fundamental significance. With the progress of immunogenetics and surgical techniques, the prospects for treating difficult-to-treat genetic diseases, such as retinitis pigmentosa, are encouraging. The great German poet Goethe said, "What I do is merely to harvest the crops that others have sown for me." What I have done is to categorize and organize the 'fruits' others have harvested and then offer them to the readers. Due to our limited expertise, experience, and inadequate resources, there will undoubtedly be many errors. We sincerely invite our ophthalmology colleagues and readers to correct them. We are grateful for your support. The purpose of establishing this research website is to call on society to pay attention to retinitis pigmentosa, a genetic disease, and to provide as much support and assistance as possible to patients. At the same time, we urge ophthalmology colleagues to engage in research collaboration and website communication, so that more RP patients can achieve effective control of their condition and satisfactory treatment. If patients with retinitis pigmentosa can find inspiration from our website, gain the courage to live, and realize that the colorful world will not leave them, we will be immensely gratified.Overview of Genetic Diseases (Genetic Diseases)
Genetic diseases,, refer to diseases caused by mutations in the genetic material (genes or chromosomes) of germ cells or zygotes. Retinitis pigmentosa is a chronic, progressive, hereditary, and malnutrition-related retinal degenerative disease. It gradually leads to vision loss and can often be inherited by offspring. The retina is located at the deepest part of the fundus, the inner wall of the eye, and is a delicate tissue with multiple layers of photoreceptor cells. The outermost layer consists of photoreceptor cells and the retinal pigment epithelium. Photoreceptor cells transmit visual images to the brain. There are two types of photoreceptor cells: cone cells and rod cells. Cone cells are concentrated in the central fovea of the macula and are responsible for central vision and color discrimination. Rod cells gradually increase from the center outward, with only rod cells present in the periphery. Rod cells are responsible for peripheral and night vision.
Etiology (Causes)
This disease is most commonly inherited in an autosomal recessive manner, accounting for more than 70%; autosomal dominant inheritance is less common, accounting for 5-20%. X-linked inheritance is also prevalent. Regarding the pathogenesis of retinitis pigmentosa, new insights have emerged in recent years, but it remains difficult to determine which area—photoreceptor cells or the retinal pigment epithelium—is the earliest site of onset. Currently, scholars worldwide are studying the pathogenesis of this disease from the perspectives of genetics, histopathology, immunology, and biochemical metabolism. It has now been confirmed that in the pathological changes of retinitis pigmentosa, the outer segment discs of rod cells are lost early. Whether this loss of rod cell outer segment discs is related to the early onset of nyctalopia remains unclear. Additionally, the accumulation of extracellular disc debris forms a barrier, impairing the transport of nutrients from the choroid to the retina, leading to progressive nutritional deficiencies and gradual degeneration and disappearance of photoreceptor cells. This may be related to programmed cell death and the clearance of certain cells. Zinc and copper in the human body participate in the formation of melanin, and copper is also essential for the regeneration of rhodopsin. Therefore, abnormalities in trace elements such as zinc and copper, as well as enzyme metabolism, may also be contributing factors. Furthermore, humoral and cellular immunity may also play a role in the onset of primary retinitis pigmentosa.
I. Primary Retinitis Pigmentosa
Primary retinitis pigmentosa is an autosomal recessive genetic disease, usually affecting both eyes with a clear family inheritance pattern. Parents often have a history of consanguineous marriage, and male patients are more common than female patients. The incidence rate in the population is 1/3,500. This disease falls under the category of "high wind cataract" in traditional Chinese medicine and is known as "night blindness cataract." The Medical Classics of the Jin Dynasty, New Methods for Treating Eye Diseases (Wu Qian et al., Qing Dynasty) states: "The symptoms of high wind cataract are that both eyes become dim in the evening and clear in the morning. This is due to accumulated heat in the liver and deficiency in the kidney, resulting in a state where yin is weak and yang is dominant. In the evening, when the external yin is strong, it helps the body's yin, allowing vision of the upper part but not the lower part. In the morning, when the external yang is strong, it helps the body's yang, and both eyes become clear again."
Clinical Manifestations
Nyctalopia is the earliest symptom, characterized by reduced dark adaptation ability, gradual constriction of the visual field, and progressive vision loss, ultimately leading to blindness. Retinal electrophysiological changes often occur much earlier than subjective symptoms and fundus changes. Color vision is usually normal in childhood but gradually progresses to blue blindness. Fundus examination reveals the "triad" of retinitis pigmentosa, including optic nerve atrophy, narrowed retinal vessels, and retinal pigment deposition. The pigment deposits often appear as bone corpuscle-like changes. The location of retinitis pigmentosa typically refers to the retinal pigment epithelium. The pathology of the retinal pigment epithelium depends on whether there is obvious degeneration visible on the surface of the retina.
II. Crystalline Retinitis Pigmentosa
This is an autosomal recessive genetic disease related to primary retinitis pigmentosa. The incidence rate in the population is 1/2,400, with more male patients than female patients. The age of onset is typically between 20-40 years, with bilateral lesions that are roughly symmetrical and develop simultaneously. In some cases, the parents have a history of consanguineous marriage. Crystalline retinitis pigmentosa shares some symptoms with primary retinitis pigmentosa. In the early stages, retinal vessels are normal, but in the late stages, arteries may become slightly narrowed. Against a background of grayish-blue retinal coloration, numerous crystalline (shining points) are scattered. These points may be cholesterol crystals. Closer to the fovea, the arrangement becomes denser, even merging into plaque-like formations, making the foveal reflex indistinct. In some cases, bone corpuscle-like pigment deposits may be observed. Occasionally, small hemorrhagic areas may appear, gradually organizing into white membranous tissue. At this stage, the periphery of the fundus may remain relatively normal. Over time, the retinal pigment epithelium and choroidal capillaries may atrophy, exposing larger choroidal vessels, which may appear partially or completely hardened, particularly around the optic nerve head.