Anophthalmos is characterized by the absence of one or both eye systems. In many cases, it represents a symptom in the context of a hereditary disease. However, it can also occur after severe eye disease or enucleation.
What is anophthalmos?
Anophthalmos represents the absence of ocular anlagen. The term anophthalmia may also be used synonymously with anophthalmos. There is both unilateral and bilateral anophthalmia. Anophthalmos is rare and often occurs in the context of congenital disorders. The congenital disorders may be hereditary or caused by disorders during pregnancy. Among the congenital diseases in which anophthalmia may develop are the so-called Pätau syndrome, holoprosencephaly or Fraser syndrome. However, anophthalmia can also develop as a result of infections, tumors or trauma to the eyes. In some cases, the eyeballs must be surgically removed as part of a severe eye disease. This procedure is also called enucleation.
Causes
There are many causes for the development of anophthalmos. It should be remembered that eye development is a very complicated process. Thus, the severity of the malformation also depends on the developmental state of the embryo at which the maldevelopment begins. The critical phase of eye development takes place in the third to seventh week of pregnancy. Disturbances at this period can lead to the complete absence of the eye anlagen. Sometimes, however, the higher components of the visual pathway are nevertheless laid out up to the cerebral cortex. In this developmental phase, gene mutations, chromosomal changes or even intrauterine infections have a great influence on the formation of the ocular anlagen. Anophthalmia can develop in the context of Pätau syndrome, Fraser syndrome or holoprosencephaly, among others. The Pätau syndrome is a hereditary disease in which a trisomy of chromosome 13 is present. In this case, chromosome 13 is present three times instead of the normal two. In addition to a variety of malformations, anophthalmia can also occur. Fraser syndrome is also hereditary and shows, in addition to many malformations, the absence of both eye systems as a main symptom. Holoprosencephaly is again characterized by a prenatal maldevelopment of the face and forebrain. There are both genetic and environmental causes. Infections and environmental toxins play a role. Subsequent diseases of the eyes such as infections, tumors, or injuries can lead to the acquired forms of anophthalmia.
Symptoms, complaints, and signs
In congenital anophthalmia, the child is born blind without eye facilities. In this case, anophthalmos also affects the rest of the skull growth. It not only disturbs the development of the eye socket (orbit) including its contents. Especially the facial skull cannot grow properly. Therefore, further deformations occur mainly in the area of the face. A facial asymmetry develops, which has effects on the entire masticatory apparatus. Therefore, the changes in the face are directly related to the missing eye anlagen. Therefore, in the case of congenital anophthalmos, the primary fitting of glass shell prostheses is not possible. The other symptoms depend on the underlying disease. Consequence of anophthalmos can also be psychological and psychosomatic complaints.
Diagnosis and course
Anophthalmia is defined as an absent eye facility and is therefore easy to detect. It is more difficult to diagnose the underlying disease. However, for the treatment of anophthalmia, it is crucial to know whether it is congenital or acquired. Radiographic examinations can determine the extent of the malformation.
Complications
Very serious complications can occur with anophthalmos. In itself, anophthalmos is a serious complication because the person has been blind since birth. This leads to significant limitations in everyday life and social life. Blindness also usually leads to a lower life expectancy, as the patient cannot properly recognize and anticipate certain diseases or dangerous situations.The absence of eyes also causes facial deformities, as the skull can no longer grow without restrictions. Anophthalmia cannot be treated because the eyes cannot be replaced easily. Therefore, the patient must spend his entire life without eyesight, which can lead to depression and moodiness. For this reason, treatment is mainly limited to cosmetic surgery to remove asymmetries in the face. The empty eye socket can be filled with an artificial eye. However, the treatments are not possible in children, because in them the dimensions of the face and the eye socket change due to growth. In anophthalmos, it is not expected that the disease will disappear without therapeutic help.
When should one go to the doctor?
Anophthalmos in a child is usually detected during pregnancy during routine ultrasound examinations. The attending physician can usually see the absence of one or both eye systems directly and will communicate this to the parents immediately. Further treatment steps usually include consultations with specialists and other affected individuals. Often, the child’s mother and father take advantage of other treatment options. If anophthalmos is not noticed directly, it can be diagnosed at birth at the latest. A prompt medical examination provides information about treatment options. In most cases, the missing eyes can be replaced by an ocular prosthesis. However, the eyesight itself is not restored with these facial cosmetic measures. Nevertheless, further visits to the doctor are necessary, during which the prosthesis is adjusted again and again. Whether the affected child will need medical assistance later in life depends on many factors. Therapeutic measures can be used to increase the self-esteem of the affected person and to accept the anophthalmos in the long term. Psychotherapeutic evaluation is particularly necessary in cases in which anophthalmia has developed later in life.
Treatment and therapy
Treatment of anophthalmia is for facial cosmetic purposes. It cannot produce eyesight. Missing eyes are replaced by an ocular prosthesis. However, it makes a difference whether anophthalmos is congenital or acquired. In the case of congenital anophthalmos, the proportions change constantly while the patient is still growing. A prosthesis must be adjusted again and again. In this process, the artificial eye is manufactured individually depending on the size of the eye socket. However, this must be done constantly because the size of the eye sockets changes constantly during growth. Especially in very young patients, the underdeveloped eyelid apparatus often does not allow the position of the glass shell to be stabilized. Even slight mechanical stresses, such as rubbing the eyes, quickly loosen the prosthesis and cause it to change position. Surgical interventions are performed to strengthen the eyelid apparatus in order to stabilize the position of the ocular prosthesis. This often proves to be very complicated. Therefore, procedures are being developed to stretch the conjunctival sac with a so-called tissue expander and thus stimulate it to grow. However, these procedures are not yet fully developed. However, improvements could be achieved. In the case of acquired anophthalmos due to disease or accident, growth is usually already complete, so that the dimensions of the eye sockets no longer change. Thus, it is very easy to insert a stable eye replacement in this case.
Outlook and prognosis
There is no prospect of improvement in health conditions in anophthalmos. Restoration of eyesight or a functional artificial reconstruction of the entire eye area is not possible with current medical options. It is a genetic defect that cannot or must not be corrected either scientifically or for legal reasons. A shortening of the normal life expectancy is not given with the anophthalmos. Nevertheless, various secondary diseases may lead to a deterioration of the general condition. The absence of eyesight contributes to difficulties in coping with everyday life. Without some help, independent living is almost impossible. There is a risk of mental and emotional problems. These have a negative impact on health. Stress and decreased self-confidence can lead to the formation of fear of rejection.In most cases, with therapeutic support, there are good prospects for coping with everyday conflicts, as coping with health impairments is learned from birth. Nevertheless, permanent psychological disorders can also occur, with little or no relief. In addition to the psychological stresses, the insertion of an ocular prosthesis can result in inflammation or damage to the surrounding regions. These further weaken the general well-being.
Prevention
Prevention from congenital anophthalmos is usually not possible. Very often, it is a genetic condition that leads to this malformation in the early stages of embryonic development. However, since certain environmental influences can also lead to malformations, smoking and alcohol should be avoided during pregnancy. Continuous medical examinations during pregnancy are also important in order to exclude or detect fertility-damaging diseases in good time. Since diabetes is also a risk factor, a balanced diet and plenty of exercise are recommended.
Follow-up care
Follow-up care cannot aim to prevent recurrence of the disorder anophthalmos. This is because there is no cure for the disorder. Anophthalmos usually has genetic causes and is present in newborns. In addition, accidents or severe diseases can also cause the typical symptoms. Follow-up care should primarily facilitate everyday life. To determine the extent of eye impairment, doctors perform extensive examinations of the visual organ. X-rays can also reveal the extent of the disease. A missing eye is usually replaced by a prosthesis. Since children are still growing, this cosmetic product must be adjusted regularly. Suitable facilities such as an eye socket are not always available. Challenges also arise away from appearance. The limited perception can be addressed in therapy. The aim is to cope with everyday life as independently as possible despite the limited vision. Many affected people suffer from psychological disorders with increasing age. Stress and fear of rejection can be reduced in psychotherapy. Sometimes discussions in a self-help group also help. Aftercare thus primarily pursues cosmetic and psychological goals.
What you can do yourself
Since the anophthalmus is congenital, the baby and later the toddler need special support from the very beginning, especially if the anlage of the eyes on both sides is missing. One-eyedness is so well compensated by the brain that the adult can lead a completely normal life, in case of bilateral genetic defect, the child, and later the adult, must learn to lead the life of a blind person. In the few cases where the anophthalmus does not develop until adulthood due to illness or accident, the patient will not be able to do without accompanying psychotherapeutic treatment. Self-help groups for the blind also exist. The parents of “children without eyes” also offer a Germany-wide self-help group for the affected relatives. To protect against false pity and incompetent comments, the website for this is not public. However, there is an e-mail address that can be used to contact the group. Since even a child with unilateral anophthalmos cannot avoid numerous cosmetic surgeries, parents whose daughter or son is “only” affected unilaterally are also in the right place here.
