Microphthalmos affects the eye and is present when both or one of the eyes are abnormally small or underdeveloped. In most cases, the phenomenon is congenital and occurs, for example, in the context of various malformation syndromes. The therapy is limited to the prosthetic fitting and thus the cosmetic correction.
What is microphthalmos?
Various malformations mainly affect the eyes. A malformation of the eyes is the so-called microphthalmos. This phenomenon is present whenever a patient’s eye is abnormally small. Microphthalmos is congenital. Not only an unusual size, but also a rudimentary eyeball is called microphthalmos. The condition is unilateral in one eye or bilateral in both eyes. See AbbreviationFinder for abbreviations related to Microphthalmos.
The phenomenon is sometimes also titled with the Germanized version of the term microphthalmia. The underdevelopment of an eyeball can occur symptomatically in the context of various malformation syndromes, for example in trisomy 13. Microphthalmia is congenital in the majority of cases and is therefore rarely an acquired variant.
The phenomenon is to be distinguished from anophthalmos. In the context of anaphthalmos, one eye is either not created at all or is reduced to a few remnants. Microphthalmos is classified as a so-called inhibition malformation.
Causes
The cause of microphthalmia is to be 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 eyes. In addition to mictophthalmos, there are often other inhibition malformations such as coloboma in the sense of a cleft formation in the iris, which can also be attributed to developmental disorders.
Together with other inhibition malformations, microphthalmos characterizes Delleman’s syndrome, for example. Inhibition malformations can sometimes be induced by thalidomide. Other triggers for the deformities can be infection during early pregnancy. In this context, rubella, cytomegaly or toxoplasmosis should be mentioned in particular.
Apart from trisomy 13 and Peter Plus Syndrome, microphthalmos is present in malformation syndromes mainly in Aicardi Syndrome and Patau 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 globe in both or one side. All further symptoms depend on the cause of the phenomenon. In the case of malformation syndromes, for example, there are many other malformations apart from microphthalmos. Congenital microphthalmos does not cause pain.
Acquired forms can sometimes be painful in the acute phase. In most cases, the physiology of the affected eye is not disturbed by the phenomenon. Nevertheless, microphthalmos is sometimes associated with extreme farsightedness.
In addition to the developmental disorder, there may be a cataract in the same eye. Coloboma is also associated with microphthalmos. If the physiology of the eye is affected by the phenomenon, the patient’s eyeball sometimes turns sideways or twists.
Symptoms, Ailments & Signs
Microphthalmos is characterized by an exceptionally small eye, which often causes only minor symptoms. It is usually a congenital malformation of the eyes. Therefore, the diagnosis can usually be made immediately after birth. Sometimes the eye isn’t even there. Then it is called anophthalmos.
Microphthalmos can affect both eyes or just one. In addition to the congenital forms, there are also acquired forms of the disease. This can especially happen with serious eye injuries or certain eye conditions in which one or both eyeballs are completely lost. In the case of microphthalmos, the physiology of the affected eye is usually completely intact.
However, in most cases, pronounced farsightedness is observed. However, other malformations and eye diseases are also possible depending on the respective causes. Among other things, this often leads to a clouding of the lens of the eye ( cataract ). This can cause the [impaired vision|impaired vision of the eye]].
A so-called coloboma is also frequently observed as a malformation. A coloboma is a fissure that can affect the lens, eyelid, or choroid of the eye. Clefting is not characterized by uniform symptoms. Sometimes it even remains asymptomatic. In severe cases, however, there is a risk of blindness in the affected eye.
Diagnosis & disease progression
Microphthalmos is recognizable to a doctor at first glance. The diagnosis is therefore made exclusively by visual diagnosis. Nevertheless, further examination procedures may be necessary as part of the diagnosis, especially to determine the cause. Most malformation syndromes can be easily diagnosed on the basis of the characteristic symptom complexes.
For others, a molecular genetic analysis may be useful. The prognosis for people with microphthalmos depends on the specific cause. Above all, acquired microphthalmos as part of certain diseases can cause the affected eye to go blind.
Complications
Those affected usually suffer from various malformations as a result of microphthalmos. These lead to considerable limitations in everyday life and reduce the patient’s quality of life enormously. Not infrequently, microphthalmos can also lead to complete blindness.
Sudden blindness, especially in young people, can lead to significant psychological problems or depression. In children, too, blindness leads to severe limitations in the development of the child. Furthermore, the parents are also affected by the symptoms of microphthalmos and often suffer from psychological problems or depression. Various visual problems usually appear before blindness, 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 people affected still lose the ability to see in the affected eye. This cannot be restored, so that those affected have to live with restrictions their entire lives. The patient’s life expectancy is not reduced. With the treatment itself, there are also no special complications.
When should you go to the doctor?
Due to the visual abnormalities on the face, microphthalmos is noticed and treated by a doctor immediately after birth. In the case of an inpatient birth, the nurses and doctors who are present take over the initial care of the newborn. It is examined intensively after the birth and checked for irregularities. Parental intervention is not required in these cases. If the birth takes place in a birth center or at home, the obstetrician or midwife present will carry out the initial examination. As soon as anything special is noticed, a doctor or rescue service is informed. Here, too, the baby’s parents do not have to become active, as the tasks are carried out by trained staff.
If there is a sudden birth without the presence of a doctor or midwife, an emergency doctor should be contacted or the nearest hospital should be contacted as soon as possible. Microphthalmos is characterized by an unusually small eye shape. The malformation of the eyes can also be recognized by laypeople and should be presented to a doctor as soon as possible. Various medical tests are necessary to enable a diagnosis to be made. Visual disturbances or irregularities in vision are also signs of an existing disease. As soon as these are noticed in the growing child, they should be evaluated and treated by a doctor.
Treatment & Therapy
Treatment for microphthalmos depends on the cause. When endophthalmitis is present, treatment primarily involves prompt administration of high doses of broad -spectrum antibiotics. After an antibiogram, it may be necessary to switch to more effective antibiotics. The drug should be selected depending on the germs detected.
Some active ingredients can be injected intravitreally. Glucocorticoids are suitable as supplementary therapy. If the causative disease can be cured in time with antibiotics and glucocorticoids, microphthalmos that impairs function usually does not occur. However, the prognosis is unfavorable, especially in the context of endophthalmitis. Those affected often lose the ability to see in the affected eye.
The microphthalmos can then only be corrected cosmetically, but not functionally. Even in the context of malformation syndromes, the cause of microphthalmos cannot be cured. The malformation has already taken place. If it impairs the function, this impairment cannot be reversed afterwards. However, symptomatic approaches are available for the cosmetic impairments caused by microphthalism.
In most cases, the patients are provided with prostheses. Due to the developments in today’s prosthetics, others hardly notice microphthalmos anymore or not at all. A highly hydrophilic hydrogel expander is now often used for adequate fitting with prostheses, so that fitting with a prosthesis is already possible in the first few months of life.
Outlook & Forecast
A prognosis is intended to inform a patient what to expect in the future. Statistical surveys form the basis for this. Unfortunately, due to the comparatively low incidence, there are no precise prognoses for microphthalmos. In principle, however, a good view can be assumed. The ability to work and individual opportunities are rarely restricted. Last but not least, the cause is also relevant for such optimism. In contrast to the quality of life, life expectancy is generally not reduced.
If the microphthalmos is due to a genetic pathology, it is difficult to make any statements about future developments. In general, early treatment has a positive effect on the disease. This can prevent vision loss and facial symmetry disorders.
Loss of sight is definitely possible. This results in severe limitations. Disability is usually unavoidable. Those affected can then only correct the microphthalmos cosmetically. In practice, however, timely therapy for the acquired form proves to be problematic for ophthalmologists. This is because the disease was unpredictable. Therapeutic approaches can therefore not be initiated in good 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. The acquired forms of microphthalmos cannot be successfully prevented either, since infections of the eye are not necessarily foreseeable.
Aftercare
Follow-up care cannot aim to prevent recurrence of microphthalmos disease. This is because the disorder cannot be cured. Microphthalmos usually has genetic causes and is already present in newborns. In addition, accidents or serious illnesses can also cause the typical symptoms.
Aftercare should primarily make everyday life easier. In order to determine the extent of the eye impairment, doctors carry out extensive examinations of the visual organ. X-rays can also show 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. Aside from looks, there are also challenges. The limited perception can be addressed in therapy. The aim is to cope with everyday life as independently as possible despite the limited eyesight. Many sufferers suffer from mental disorders as they get older. Stress and the fear of rejection can be reduced in psychotherapy. Sometimes talking to a self-help group can help. The aftercare thus primarily pursues cosmetic and psychological goals.
You can do that yourself
In addition to medical therapy, some self-help measures and aids can be used for microphtalmus. First of all, 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 therapy is given, the less likely it is that you will lose your vision. Parents who notice an unusually small eye in their child should speak to a healthcare professional.
However, this cannot always completely correct the cosmetic abnormality. That is why a long-term therapeutic consultation is recommended. Younger people in particular suffer from the aesthetic blemish and withdraw from social life. If the child is being teased or excluded, the responsible teacher should be spoken to. The only way to compensate for the reduced eye and the deteriorated vision is glasses with a correspondingly high prescription. Suitable glasses should be worn as early as possible, as this will at least reduce any late effects.
If eye problems or psychological consequences of the malformation occur later in life, a doctor must be consulted in any case.