Microphthalmos affects the eye and is present whenever both or one of the eyes are abnormally small or underdeveloped. The phenomenon is congenital in most cases and occurs, for example, as part of various malformation syndromes. Therapy is limited to prosthetic fitting and thus cosmetic correction.
What is microphthalmos?
Various malformations predominantly affect the eyes. One malformation of the eyes is called microphthalmos. This phenomenon is present whenever one eye of a patient is abnormally small. Microphthalmos is congenital. Not only an abnormal size, but also a rudimentary eyeball is called microphthalmos. The phenomenon affects unilaterally either only one eye or is present bilaterally in both eyes. The phenomenon is sometimes also called microphthalmia. Underdevelopment of one eyeball can occur symptomatically in the context of different malformation syndromes, for example in trisomy 13. Microphthalmia is congenital in a majority of cases and thus rarely occurs as an acquired variant. Anophthalmos must be distinguished from this phenomenon. In anaphthalmia, an eye is either not formed at all or reduced to a few remnants. Microphthalmos is classified as one of the so-called inhibition malformations.
Causes
The cause of microphthalmia is found in genetics. Mutations can cause the phenomenon, for example, in trisomy 13 and the so-called Peter Plus syndrome. The mutations are accompanied by a disturbance in the morphogenetic development of the eye. Frequently, other inhibitory malformations such as coloboma in the sense of a cleft formation at the iris are present concomitant to mictophthalmos, which can also be attributed to developmental disorders. Together with other inhibition malformations, microphthalmos, for example, characterizes the Delleman syndrome. Inhibition malformations may be induced by thalidomide under certain circumstances. Other triggers for the malformations may be infection during early pregnancy. In this context, rubella, cytomegalovirus, or toxoplasmosis are most notable. In the context of malformation syndromes, apart from trisomy 13 and Peter Plus syndrome, microphthalmos is mainly present in Aicardi syndrome and Pätau syndrome. In extremely rare cases, the phenomenon is acquired and then occurs in the context of diseases such as retrolental fibroplasia, endophthalmitis or after eye injuries. Patients with microphthalmos have an underdeveloped eye with a small eyeball on both or one side. All other symptoms depend on the cause of the phenomenon. For example, in malformation syndromes, apart from microphthalmos, many other malformations are present. Congenital microphthalmos does not cause pain. Acquired forms may be painful in the acute phase. The physiology of the affected eye is not disturbed by the phenomenon in most cases. Nevertheless, microphthalmos is sometimes associated with extraordinary farsightedness. In addition to the developmental disorder, cataract of the same eye may be present. Coloboma is also associated with microphthalmos. If the physiology of the eye is affected by the phenomenon, the patients’ eyeball sometimes straightens sideways or twists.
Symptoms, complaints, and signs
Microphthalmos is characterized by an abnormally small eye, but it often causes only minor symptoms. In most cases, it is a congenital malformation of the eye. Therefore, the diagnosis can usually be made immediately after birth. Sometimes the eye is not formed at all. Then it is called anophthalmos. Microphthalmos can affect both eyes or only one eye. However, in addition to congenital forms, there are also acquired forms of the disease. This can occur especially in cases of severe eye injuries or certain eye diseases, in which one eyeball or both eyeballs are completely lost. In microphthalmos, the physiology of the affected eye is usually completely intact. In most cases, however, marked farsightedness is observed. However, other malformations and eye diseases are additionally possible depending on the respective causes. Among other things, clouding of the eye lens (cataract) occurs more often.This can limit the [visual disturbances|vision of the eye]]. A so-called coloboma is also frequently observed as a malformation. A coloboma is a cleft formation that can affect the lens, eyelid, or choroid of the eye. The cleft formation is not characterized by uniform symptoms. Sometimes it even remains asymptomatic. In severe cases, however, blindness of the affected eye is imminent.
Diagnosis and course of the disease
Microphthalmos is recognizable to a physician at first glance. Therefore, the diagnosis is made exclusively by visual diagnosis. Nevertheless, further examination procedures may be required as part of the diagnostic process, especially to determine the cause. Most malformation syndromes can be easily diagnosed on the basis of the characteristic symptom complexes. For others, molecular genetic analysis may be useful. The prognosis for people with microphthalmos depends on the particular cause. Acquired microphthalmos in the context of certain diseases, in particular, can cause blindness in the affected eye.
Complications
As a result of microphthalmos, affected individuals usually suffer from various deformities. These thereby lead to considerable limitations in everyday life and enormously reduce the patient’s quality of life. Not infrequently, microphthalmos can also lead to complete blindness. Especially in young people, sudden blindness can lead to significant psychological discomfort or depression. Also in children, blindness leads to severe limitations in the child’s development. Furthermore, the parents are also affected by the symptoms of microphthalmos and not infrequently suffer from psychological discomfort or depression. Before blindness, various visual complaints usually appear, so that patients suddenly suffer from farsightedness. Treatment of microphthalmos is carried out with the help of antibiotics. It usually leads to success. However, most of the patients still lose the vision in the affected eye. This cannot be restored, so that those affected have to live with restrictions for the rest of their lives. The life expectancy of the patient is not reduced. No particular complications also occur during the treatment itself.
When should one go to the doctor?
Microphthalmos is noticed and treated by a doctor immediately after birth because of the visual abnormalities on the face. In the case of inpatient birth, attending nurses and physicians provide initial care for the newborn. After delivery, the baby is intensively examined and checked for irregularities. Parental intervention is not required in these cases. If a birth occurs in a birth center or if a home birth takes place, the obstetricians or midwife present take over the task of the initial examination. As soon as any peculiarities are noticed, a doctor or an emergency medical service is informed. Again, the infant’s parents do not need to become active, as the tasks involved are handled by trained personnel. If a sudden birth occurs without the presence of a doctor or midwife, an emergency physician should be contacted as soon as possible or the nearest hospital should be visited. Microphthalmos is characterized by an abnormally small eye shape. The malformation of the eyes can be recognized by laypersons and should be presented to a physician as soon as possible. Various medical tests are necessary to make a diagnosis. Disturbances in the ability to see or irregularities in vision are also signs of a present disease. As soon as these are noticed in the growing child, they should be examined and treated by a physician.
Treatment and therapy
Treatment of microphthalmos depends on the specific cause. If endophthalmitis is present, treatment primarily involves immediate administration of broad-spectrum antibiotics at high doses. After antibiogram, a switch to antibiotics with more potent activity may need to be administered. The drug should be selected depending on the germs detected. Some agents can be injected intravitreally. Glucocorticoids are suitable as adjunctive therapy. If the causative disease can be cured in time by the antibiotics and glucocorticoids, there is usually no function-impairing microphthalmos.However, the prognosis is unfavorable, especially in the context of endophthalmitis. Sufferers often lose the ability to see in the affected eye. The microphthalmos can only be corrected cosmetically, but not functionally. Even in the context of the malformation syndromes, microphthalmos is not causally curable. The malformation has already occurred. Therefore, if it impairs function, this impairment cannot be reversed retrospectively. However, symptomatic approaches are available for the cosmetic impairments caused by microphthalmos. In most cases, patients are fitted with prostheses. Due to the developments in today’s prosthetics, others hardly notice the microphthalmos anymore, if at all. For adequate fitting with prostheses, a highly hydrophilic hydrogel expander is now frequently used, so that fitting with a prosthesis becomes possible already in the first months of life.
Outlook and prognosis
A prognosis is intended to inform a patient what to expect in the future. Statistical surveys form the basis for this. Unfortunately, because of the comparatively low incidence, no precise prognoses are available for microphthalmos. In principle, however, a good outlook can be assumed. The ability to work and individual possibilities are rarely limited. For such optimism, however, not least the cause is relevant. In contrast to the quality of life, the life expectancy is basically not reduced. If the microphthalmos is due to a genetic pathology, it is hardly possible to make statements about the future development. In general, early treatment has a positive effect on the disease. Thus, the decrease of vision and disturbances of facial symmetry can be prevented. Loss of eyesight is quite possible. This results in severe limitations. Occupational disability is usually inevitable. Affected persons can then only correct the microphthalmos cosmetically. In practice, however, timely therapy for the acquired form proves problematic for ophthalmologists. This is due to the fact that the disease was not foreseeable. Therapeutic approaches can therefore not be initiated in time.
Prevention
Mothers may be able to prevent congenital microphthalmos by protecting themselves against rubella before pregnancy. However, not all forms of the genetic variant can be extensively prevented. Acquired forms of microphthalmos also cannot be promisingly prevented because infections of the eye are not necessarily predictable.
Follow-up
Follow-up care cannot aim to prevent recurrence of the disorder microphthalmos. This is because there is no cure for the disorder. Microphthalmos 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
Accompanying medical therapy, some self-help measures and aids can be used for microphtalmus. First, however, it is important to start medical treatment as early as possible and to have the course of the disease closely monitored by a doctor. The earlier the treatment is given, the less likely it is that vision will be lost. Parents who notice an unusually small eye in their child should talk to a medical professional. However, this may not always correct the cosmetic abnormality completely.That is why therapeutic counseling is also recommended in the long term. Younger people in particular suffer from the aesthetic blemish and withdraw from social life. If the child is teased or ostracized, the responsible teacher should be spoken to. The only way to compensate for the reduced eye size and deteriorated vision is to wear glasses with an appropriately high visual acuity. Suitable glasses should be worn as early as possible, as this will at least reduce any late effects. If eye complaints or psychological sequelae of the malformation occur later in life, a doctor should be consulted in any case.
