Blefarofimoz – the ophthalmologic syndrome which is shown a bilateral ptoz in combination with reduction of the vertical and horizontal size a century. Main symptoms: a pathological section of eyes, increased fatigue when performing visual work, deterioration in sight, accommodation violation. Fizikalny inspection, ultrasonography of an eye, biomicroscopy, a vizometriya, a contactless tonometriya is applied to diagnosis. Tactics of treatment comes down to the expeditious multi-stage reconstruction a century including a kantoplastika with the subsequent correction of a ptoz.
Blefarofimoz – one of dysplasia forms a century for the first time described in 1889 by the French ophthalmologist Vinem. In 55% of cases sporadic forms of pathology are observed. It is possible to reveal genetic mutations or to establish hereditary predisposition by means of a genealogical method only at 45% of patients. Persons men's and female are ill with an identical frequency. The disease is diagnosed more often for inhabitants Northern, East and Southeast Asia that is caused by national peculiarities of appearance. Statistical data on the general prevalence of a blefarofimoz in ophthalmology are absent.
Reasons of a blefarofimoz
The disease etiology is up to the end not studied. The disease can develop separately or be found in structure of genetic pathologies (Shilbakha-Rott's syndrome, - the person - a manual syndrome). Blefarofimoz often is possible to diagnose for other family members that speaks about his hereditary nature. Starting factors are:
- Teratogenny influence. The most expressed embriotoksichesky influence accords welcome of alcoholic drinks, smoking, consumption of drugs during pregnancy. Everything listed promotes emergence of sporadic mutations.
- Reception of medicines. Defects of eyes are often caused by application by pregnant women of medicines who influence formation of an eyeball. Antipsychotic means, narcotic analgetics, simpatomimetik, stimulators of nervous system concern to them .
- Infectious diseases. Emergence of symptomatology of a disease can be caused by pre-natal infection with a virus of measles, rubella, herpes. Virus agents are capable to get through a gematoplatsentarny barrier and to influence negatively an embryogenesis of an organ of vision.
- Influence of physical factors. Development of a congenital blefarofimoz is provoked by radiation exposure. Usually it is connected with performing radiological diagnostics during pregnancy, is more rare – with impact of ionizing radiation in life or on production.
Blefarofimoz – the congenital, genetically determined pathology. Inheritance type – autosomno-prepotent. Scientists connect development of a disease with mutations of a gene of FOXL2 which is localized on 3q22.3-q23. The phenomenon of formation of pathological fabrics in an orbit zone is characteristic of a disease. Formation of solderings leads to an union of palpebralny edges, is more often – lateral. Anomaly is formed in the first trimester of pregnancy when there is a bookmark a century and an eyeball. Influence of teratogenny factors on the sixth month of an embryogenesis of a fruit provokes violation of splitting of frontonazalny and maxillary shoots to the lower and upper eyelid.
At pre-natal infection with viruses of herpes, a rubella or measles at genetically compromised persons process of differentiation of structures of an eyeball is broken, it becomes the reason of multiple malformations of an organ of vision. The syndrome of a blefarofimoz is considered as one of manifestations of miogenny, is more rare than a neurogenetic ptoz. At the miogenny nature of a disease a dysplasia the century is combined with dystrophic changes of a circular muscle of an eye. At persons with a neurogenetic form the underdevelopment of a glazodvigatelny nerve is observed. At the same time the innervation of integuments in orbital area is broken.
Symptoms of a blefarofimoz
The first symptoms of a disease come to light in the neonatal period. Parents pay attention to an unusual section of eyes of the child. An eye crack not only excessively narrow, but also shortened. Deformation of a medial corner of an eye is visualized. At patients the nose bridge underdevelopment is defined. The distance between the right and left eyeball is increased that testifies to a gipertelorizm. The distance between internal corners of eye cracks is also increased. The vertical fold of skin of a semi-lunar form located in a lower eyelid is found. The upper eyelid is lowered. Smykany an eye crack it is sharply limited.
Patients of advanced age show complaints to bystry fatigue of eyes at visual loadings, excessive lachrymation, feeling of a foreign matter or "sand" under centuries. Because of a narrow orbital crack functioning of the akkomodatsionny device is broken that leads to visual dysfunction. At patients with the heavy course of a disease lag in intellectual development is observed. In case of the accompanying development of a mikroftalm visual acuity is reduced up to a total blindness. At most of patients the increased dryness of eyes is noted, the kseroftalmiya often comes to light. Because of cosmetic defect social adaptation is broken.
The most widespread complication of a blefarofimoz – centuries. Patients are subject to risk of infectious complications of a forward segment of eyes (conjunctivitis, keratit, blefarit). Smykaniye pathology the century and defective structure of a plaintive film provoke emergence of a syndrome of a dry eye. The high probability of an inflammation of the nososlezny channel with the subsequent development of a dakriotsistit is observed. Defect of a bone wall of an eye-socket leads to relative lengthening of a longitudinal axis of an eye and a secondary gipermetropiya. The exception is made by patients with mikroftalmy.
Diagnosis is based on data of fizikalny inspection and specific techniques. Visually reduction of the size of vertical and horizontal eye cracks, , a hypoplasia of orbital edge of a nose bridge is defined. Extent of restriction of mobility of an upper eyelid is measured. The following tool methods of a research are applied:
● Vizometriya. The nature of visual dysfunction depends on severity of a disease. At easy forms visual acuity meets standard. At the complicated current deterioration in sight can reach an amavroz.
● eye Biomicroscopy. At a research of a forward segment of an eyeball the injection of vessels of a conjunctiva and an ulceration of a cornea comes to light. These changes have secondary character.
● Contactless tonometriya. In the anamnesis at patients violation of secretion of watery moisture is noted. In some cases it leads to decrease in intraocular pressure.
● ultrasonography of an eye. Ultrasonography allows to reveal a bilateral symmetric hypoplasia of the top departments of an eye-socket. It is possible to visualize reduction of diameter of an eyeball that speaks about a mikroftalma.
Differential diagnostics is carried out with blefarokhalazisy and psevdoptozy. At a blefarokhalazisa development of clinical symptomatology is caused by an overhang of integuments, the arrangement of an upper eyelid is not changed. Distinctive feature of a psevdoptoz is secondary omission of an upper eyelid. As the main etiologichesky factor the eyeball hypotrophy, , a strabizm acts.
Treatment of a blefarofimoz
Tactics of treatment depends on anatomic features of an eye crack and the accompanying defeats, is developed individually for each patient. As a rule, patients need multi-stage reconstruction. First of all correction of a telekantus and return epikantus is shown. For this purpose carry out transnasal fixing or Z-plasticity. Further carry out a kantoplastika. The purpose of surgical intervention – correction of a section of eyes. After carrying out a kantotomiya partially delete a kantalny sinew and fix fabrics of a century to an orbit periost. In the field of a section impose a cosmetic seam.
If necessary at the final stage of reconstruction carry out correction of a ptoz. At less expressed cosmetic defect are limited to carrying out a kantopeksiya. During operation tighten a lateral palpebralny corner. External seams delete in 5-7 days after surgery. Less often in addition carry out plasticity of a medial part of an upper eyelid. The patient has to be under dynamic observation at the ophthalmologist. If necessary 3-6 months later after the last operation carry out the correcting plasticity of position of an upper eyelid.
Forecast and prevention
Timely performing surgery allows to restore completely functions a century, to eliminate or minimize cosmetic defect. Correction of visual dysfunction at the accompanying mikroftalm is not represented possible. Specific prevention of a blefarofimoz is not developed. Nonspecific preventive measures are based on the prevention of influence of teratogenny factors (alcohol, ionizing radiation, drugs and so forth) during incubation of the child. In the presence of cases of a blefarofimoz at parents or close relatives consultation of the geneticist is necessary.