So-called retinal dysplasia is a pathological malformation of the human retina. In most cases, it is a genetic condition. Retinal dysplasia is often manifested by the appearance of gray lines or dots in focus, distortion of areas, or retinal detachment.
What is retinal dysplasia?
Hereditary retinal dysplasia is based on defective development of the retina in the embryonic stage. Three types are distinguished, with the mildest change occurring in the form of retinal folds. In technical language it is called multifocal RD. So-called geographic RD refers to the appearance of irregular areas in focus due to the lack of retinal development. The most severe form of retinal dysplasia is manifested in total RD. In this case, the retina detaches completely. In the progressive form of the disease, the photoreceptors in the retina perish inexorably. Mostly the rods are affected by this atrophy first. For this reason, the affected person notices a kind of night blindness for the first time. Progressive retinal dysplasia leads to blindness in most cases and represents a so-called hereditary disease that is inherited in an autosomal recessive manner.
Causes
Retinal dysplasia has many different underlying causes. It often occurs in hereditary genetic defects. However, drugs, ionizing radiation, viral infections, trauma, or vitamin A deficiency may also be responsible for abnormal retinal differentiation. Many different retinal degenerations lead to blindness. A basic distinction is made between early and late forms, the latter based on recessively inherited genetic defects.
Symptoms, complaints, and signs
The human retina absorbs necessary nutrients through the choroid. If the retina is damaged or detachment occurs due to retinal dysplasia, the nutrient supply breaks down or no longer functions adequately. This causes the typical symptoms. The affected person perceives flashes and black twitching dots in the field of vision more and more frequently. If the retina is torn due to retinal dysplasia, the smallest blood vessels are damaged. This causes the typical appearance of flashes of light and flickering spots. These can appear over a large area and are usually in rapid motion. Often, however, the appearance of these symptoms is harmless and refers differentially to mild vitreous opacities. Those affected then usually have difficulty with strong brightness or even reading. However, since retinal dysplasia can also be present in this phenomenon, which causes serious retinal damage, a specialist should be consulted immediately in any case. Here it can be easily determined whether the causes are harmless or whether retinal dysplasia is present, in which a retinal tear may have already occurred. If this occurs in the upper part of the eye, there is usually an elongated shadow in the field of vision that extends from the bottom to the top. If the lower part is affected, the affected person usually notices dark areas in front of the eyes that slope from top to bottom like a curtain. In this case, displacements may also occur. Basically, retinal dysplasia is accompanied by blurred vision. The disease absolutely requires specialist treatment, otherwise blindness is imminent. An ophthalmoscopy quickly brings clarity.
Diagnosis and course of the disease
The retina is located in the back of the human eye. For this reason, the ophthalmologist has no way to detect dysplasia without appropriate medical tools. Usually, the so-called ophthalmoscopy, or ophthalmoscopy, is used. For this purpose, pupil dilating eye drops are used. After a short waiting period, the doctor inspects the eyes with the aid of a magnifying glass. This illuminates the back of the eye, and retinal changes that occur with retinal dysplasia can be easily seen. If retinal detachment has already occurred, gray-appearing folds as well as holes and tears can now be seen. If hemorrhages are present in the vitreous of the eye, examination of the retina becomes more difficult. In this case, sonography is usually used, which then provides a clearer picture of the changes.
Complications
Retinal dysplasia is hereditary and associated with other organ malformations that can lead to complications. First, retinal detachment may occur due to the malformation of the retina. If the retina is already torn, the affected person sees an elongated shadow that extends from the bottom to the top of the field of vision. Without treatment, retinal dysplasia leads to blindness. Therefore, surgery is often necessary to reattach the detached retina while correcting the changes in the vitreous. However, retinal dysplasia in the context of hereditary disease is only one symptom within a whole symptom complex of organic malformations. In addition, brain and lung malformations, gastrointestinal malformations, heart defects and various bone and skeletal malformations are present. Brain malformations are usually associated with mental impairment. In severe cases, death may also occur. Complications due to lung malformations also depend on the type of dysplasia. In the worst case, even miscarriage occurs because the lungs do not develop at all. Otherwise, severe chronic disorders of lung function often occur with the risk of inflammation and edema formation. Furthermore, the prognosis of the disease also depends on the type of existing heart defect. Overall, a patient with hereditary retinal dysplasia requires constant medical monitoring to avoid complications.
When should you see a doctor?
In any case, a doctor must be consulted for this condition, since self-healing does not occur. In the worst case, the affected person can go completely blind due to the disease if it is not treated in time. A doctor should be consulted if there is damage to the retina of the eyes. The retina may detach, causing visual complaints. Patients suffer from veil vision or double vision and generally from defective vision. If these complaints occur suddenly and without any particular reason, a doctor must be consulted in any case. Likewise, visual complaints in bright light may indicate this disease and must be examined by a medical professional. First and foremost, an ophthalmologist can be consulted with retinal dysplasia. Further treatment may require surgical intervention in some cases. It is not generally possible to predict whether the disease can be completely treated, as its further course depends greatly on the stage and severity of the disease.
Treatment and therapy
Treatment of retinal dysplasia often involves medication. If it is diagnosed, surgery should be performed as soon as possible. If detachment of the retina has already occurred, drug therapy is no longer possible. If the retina is merely torn, laser treatment can be successful. The laser beams cause inflammatory reactions, as a result of which the retinal tissue scars. In this way, the damage to the retina is closed and detachment is thus prevented. However, if detachment has already occurred, laser surgery is no longer successful. In this case, ophthalmic surgical treatment is inevitable. There are different approaches, depending on the type of retinal detachment due to dysplasia and the degree to which it has already progressed. The surgical goals here are to fix the detached retina and to correct the vitreous changes.
Prevention
In principle, retinal dysplasia can only be prevented to a limited extent. To prevent the serious sequelae of the disease, such as detachment of the retina, it is absolutely necessary to consult a specialist at the slightest symptoms. This specialist has the possibility to examine and treat the eye affected by retinal dysplasia at an early stage. This is especially true for patients who already suffer from severe myopia or have cataracts. In most cases, hereditary retinal dysplasia cannot be prevented in principle.
Follow-up
Retinal dysplasia is a congenital disease associated with malformations of the retina and internal organs. Follow-up care is necessary, and it must be initiated as early as possible.The main goals are a largely normal life for the affected person and symptom relief or elimination. Before treatment, the specialist must make a differential diagnosis, since other causative diseases may also underlie the symptoms. Therapy and aftercare depend on the organs affected. In many cases, surgery is necessary for correction. Here, the known postoperative measures take effect, in which healing is monitored. Even after a successful operation, aftercare continues. It is discontinued when the condition of the affected person has remained stable even after regular check-ups. In the case of inoperable damage, the focus is on relieving symptoms. For this purpose, the patient is administered medication. Follow-up care in this case is long-term and depends on the severity of the disease. It accompanies the affected person throughout his or her life, since retinal dysplasia causes severe deformities. The patient also learns an appropriate everyday way of dealing with the disease. In addition to pain-relieving medicine, simultaneous psychotherapy is recommended in case the symptoms have a negative impact on the mental health of the sufferer.
What you can do yourself
Retinal dysplasia reduces the quality of vision, which is why those affected should see their ophthalmologist immediately at the first symptoms. In a detailed discussion between the doctor and the patient, the clarification of the therapy takes place. Depending on the degree of eye disease, the doctor recommends medication or surgery. The patient should take the medication exactly as prescribed by the doctor. If the retina has already detached, surgery is inevitable. In this case, patients should not tolerate a long postponement, but they should push for a speedy treatment. They can also obtain further information on possible laser treatment. In particular, people who are severely nearsighted or have cataracts should have regular checkups. If parents or other relatives suffer from the eye disease, which is mostly genetic, the doctor should know about it. The earlier the disease can be detected and treated. A good self-assessment is just as important as honesty with the doctor. A certain fear of the operation is quite natural, but should not prevent those affected from making an appointment. There are too many dangers lurking in everyday life that can lead to accidents or mishaps when vision is impaired.
