Peters Plus Syndrome is a very rare eye disease in which the development of the anterior segment of the eye is disturbed. The disease is based on a gene mutation. Treatment focuses on relieving the resulting symptoms. Corneal transplantation is a therapeutic option.
What is Peters Plus Syndrome?
Peters Plus Syndrome or Krause-Kivlin Syndrome is an eye condition that is inherited. The medical literature only describes around 20 cases; the disease is therefore not only very rare, but also one of the rarest diseases of all. See AbbreviationFinder for abbreviations related to Peters-Plus-Syndrom.
Doctors use Peter’s anomaly, which is characterized by a malformation of the anterior chamber of the eye, as the main symptom. Only since 1984 has medicine been describing Peters Plus Syndrome as an independent syndrome that can be distinguished from similar clinical pictures.
The cause of Peters Plus Syndrome is genetic. The developmental disorder of the anterior segment of the eye is based on a mutation in the gene B3GALTL. Each gene encodes a specific sequence of amino acids that make up proteins. This creates different structures and signaling substances. The gene B3GALTL contains information about the synthesis of an enzyme that promotes biochemical processes in the body as a biocatalyst. In this case it is beta-1,3-galactosyltransferase.
This enzyme is involved, among other things, in the synthesis of sugar chains. According to a new 2015 study, the mutation could promote disruption of quality control in the endoplasmic reticulum. The endoplasmic reticulum is a structure within human cells that is responsible, among other things, for the transport of substances.
Peters plus syndrome is inherited in an autosomal recessive manner. The disease only manifests itself when both parents pass on a mutated allele to the child. As soon as there is a healthy allele in the genome, the clinical picture does not develop. The affected allele is on an autosome, i.e. not on a sex chromosome.
Symptoms, Ailments & Signs
The most important sign of Peters Plus Syndrome is what is known as Peter’s anomaly. This is an abnormality of the eyes, which is characterized by underdevelopment of the anterior chambers of the eye. The anterior chamber is located behind the cornea. Peter’s anomaly causes the lens to deform, possibly leading to a cataract, where the lens of the eye becomes cloudy.
Those affected experience the cataract as a cloudy haze in the visual acuity, which can be associated with greater sensitivity to glare. In addition, the iris may stick together in the chamber angle. Peter’s anomaly can also cause nystagmus. These are rhythmic eye movements that are beyond the control of the person affected. The syndrome leads to glaucoma in half of those affected, which endangers the optic nerve.
Furthermore, those affected often suffer from short stature, brachydactyly (shortened fingers and toes), a cleft palate and hypermobility. The latter is characterized by unusual mobility of ligaments, tendons and joints. Individuals with Peters Plus Syndrome often have a small head, a round face, and abnormally large cerebral ventricles.
The philtrum and fontanel are above average. Heart defects, kidney disorders, respiratory diseases, clinodactyly and polyhydramnios can also be signs of Peters Plus Syndrome. Motor and mental development may be delayed as a result of the various symptoms.
Diagnosis & course of disease
The first indications of Peter Plus Syndrome are the characteristic malformation of the eyes, the resulting symptoms and the general clinical appearance. Ophthalmologists can differentiate the symptoms from other diseases by conducting detailed examinations.
In the differential diagnosis, physicians must primarily consider Rieger syndrome, Weill-Marchesani syndrome, and Cornelia de Lange syndrome. A genetic test can detect the mutated gene B3GALTL and thus bring absolute certainty about the presence of Peter Plus Syndrome.
In the worst case, Peters Plus Syndrome can lead to complete blindness of the affected person. However, this usually only occurs if the disease is not treated. Sudden blindness or severe vision loss, especially in young people, can lead to severe mental health problems or even depression.
The quality of life of those affected is also significantly reduced by the disease, so that in many cases the patients are dependent on the help of other people. In addition to eye problems, in many cases those affected also suffer from short stature or heart defects. Disorders of the kidneys or diseases of the respiratory tract also occur relatively frequently in Peters Plus Syndrome and can therefore lead to a reduced life expectancy.
The children suffer from a significantly delayed development and thus from various mental and motor disorders, so that bullying or teasing can also occur. Peters Plus Syndrome can be treated by surgery. Complications do not occur and the symptoms can be alleviated. This prevents the person concerned from becoming completely blind. The other complaints are also treated as they occur. There are no particular complications.
When should you go to the doctor?
Peters Plus Syndrome is a very rare hereditary disease. A targeted diagnosis is only possible in the case of pronounced symptoms that persist over a longer period of time. If the child shows signs of underdevelopment in the area of the eyes, the responsible doctor should be informed. Corneal opacities or adhesions of the iris point to an eye disease that needs to be examined by a doctor. Short stature and the typical round face are also symptoms that need to be clarified. The medical professional can diagnose Peters plus syndrome using an ultrasound scan of the cornea and suggest symptomatic treatment.
If there are already cases of the rare disease in the family, an early diagnosis is possible. Parents of affected children should keep in close contact with the pediatrician and inform the doctor in case of complications. The condition is treated by an ophthalmologist and an optician who can prescribe a suitable visual aid. The routine examinations can be carried out by the pediatrician. In individual cases, a corneal transplant is possible, which is always carried out on an inpatient basis by a team of surgeons.
Treatment & Therapy
Since Peters Plus Syndrome is due to a gene mutation, its cause cannot yet be treated. Instead, therapy focuses on relieving the various symptoms that occur as a result of the condition. A corneal transplant may improve symptoms. The procedure, also known as keratoplasty, is the most common form of transplantation and can be used for a variety of different diseases.
For the transplant, the surgeon completely removes the damaged corneal layers and replaces them with corneal slices that come from a donor. Living donations are not possible: a surgeon removes the corneal slices from a deceased person who voluntarily decided to donate an organ while he was still alive. Donors can donate all organs or only certain organs.
High pressure inside the eye significantly increases the risk of blindness. The intraocular pressure increases in Peters plus syndrome because the aqueous humor cannot drain properly due to the malformation of the anterior chamber. As a consequence, not only the volume in the ciliary body increases, but also the pressure on the wall of the eye; glaucoma is the result. For example, it can damage the optic nerve, which carries electrical signals from the photoreceptor cells.
Outlook & Forecast
The extremely rare Peters Plus syndrome occurs in infancy. So far, 20 cases have become known worldwide. This eye disease, which occurs on one or both sides, is also known as Krause-Kivlin syndrome. Despite surgical intervention, the disease does not have a good prognosis. It is reasonable to assume that this defect is so severe at its worst that most fetuses affected never fully develop.
Peters Plus Syndrome leads to Peter’s anomaly. This is accompanied by a variety of symptoms. The severity of the malformations can vary from person to person. Therefore, the prospects must also be assessed differently. The affected children are not only affected by serious problems and malformations of the eyes. They can also be affected by a variety of other malformations that affect the entire body.
So far there is no cure for Peters Plus Syndrome, which is genetic or caused by a mutation. Because of the serious eye problems, those affected are usually severely visually impaired. They must be cared for in appropriate facilities. The other defects, malformations and disorders are also so serious that the children can never enjoy a normal life.
In some cases, corneal transplants or other surgical procedures in the area of the eyes can be considered. Otherwise, only symptomatic treatments are possible to relieve the symptoms.
Specific prevention of Peters plus syndrome is not possible. Since the disease is based on a genetic mutation, only very general prevention is conceivable. The syndrome is recessively inherited and therefore only manifests itself if both parents carry and pass on the mutated gene.
If the parents are related, the likelihood of two altered alleles coming together in the child’s genome increases significantly. Even if both parents independently carry the mutated B3GALTL gene, the child’s risk of developing Peters Plus Syndrome increases. With the help of prenatal diagnostics, doctors can determine whether the fetus carries two mutated alleles.
In most cases of Peters-Plus syndrome, the person affected has very few or even no special measures and options for aftercare available, since the disease cannot be completely treated. Since this is a congenital disease, the person concerned should definitely first undergo genetic testing and counseling if they wish to have children in order to prevent the syndrome from recurring.
As a rule, an early diagnosis generally has a very positive effect on the further course of the disease and can also prevent the occurrence of further complications. In most cases, patients with this disease are dependent on a surgical procedure, which can significantly alleviate the symptoms.
After such an operation, the person concerned should protect their eyes particularly well and generally take it easy. The eye pressure should also be checked regularly, since in the worst case it can lead to complete blindness, which is irreversible. As a rule, no further follow-up care is necessary after the treatment. The life expectancy of the patient is not negatively affected or otherwise reduced by this disease.
You can do that yourself
Peters Plus Syndrome is a serious disease that cannot be treated causally so far. The most important self-help measure is to protect your eyes. Sunlight and contact with harmful substances should be avoided. In addition, the sick should not strain their eyes with shampoos, eye drops or the like. Since the disease progresses progressively, the visual aids must be regularly adjusted to the current vision. If you experience visual problems, it is advisable to consult a doctor.
Other self-help measures are limited to a healthy lifestyle with a balanced diet and avoidance of stress. This can have a positive impact on the course of the ophthalmological symptoms associated with Peters Plus Syndrome. Those affected should act cautiously in everyday life, as there is an increased risk of accidents due to the limited vision. Especially when climbing stairs and during sports, one must pay attention to possible sources of danger. If there are more falls and other problems, an adjustment of the glasses strength is necessary.
Despite all the measures taken, Peters Plus Syndrome can have a negative impact on well-being. Therefore, talk therapy with a psychologist is always an option, which can be carried out alongside medical treatment.