Goldmann-Favre syndrome is a congenital form of progressive vitreoretinal dystrophy, in which retinitis pigmentosa, retinoschisis, vitreous pathology develops. The disease is manifested by visual dysfunction in the dark, decreased visual acuity, the appearance of “flies” or rounded opacities in front of the eyes. Diagnosis requires DNA diagnostics, electroretinography, biomicroscopy, ophthalmoscopy, ultrasound of the eye, OCT, perimetry, visometry. Conservative therapy is based on the appointment of angioprotectors, antiplatelet agents and vasodilators. Laser coagulation of the retina is shown.
General information
Goldman-Favre syndrome (hyaloid-retinal degeneration with idiopathic retinoschisis) was first described in 1958 by Swedish ophthalmologists Goldman and Favre, who diagnosed the pathology in several members of different families. The general prevalence of the disease has not been studied. In the structure of vitreoretinal dystrophy, the syndrome occupies from 5 to 7.5%. In ophthalmology, the disease occurs with the same frequency among men and women. Hyaloid-retinal degenerative changes can occur in a child with a 25% probability only if both parents are carriers of the pathological gene.
Causes of Goldmann-Favre syndrome
The majority of patients with this pathology have a mutation of the NR2E3 gene, which is inherited in an autosomal recessive type. It is often not possible to determine the cause of sporadic cases of the disease. The leading role in the development of the disease is assigned:
- Physical factors. Anomalies of the visual organ occur due to exposure to ionizing, ultraviolet and X-ray radiation. Most often, such diseases are caused by the use of X-ray diagnostic methods in the early stages of pregnancy.
- Intrauterine infections. Disorders of the formation of the eye and its appendages are often caused by the influence of rubella viruses, herpes zoster, syphilis, which have the ability to penetrate the hematophthalmic barrier. Intrauterine infection with toxoplasmosis is associated with a high risk of developing visual organ defects.
- Fetal hypoxia. It is proved that the lack of oxygen and the release of free radicals act as a trigger factor for the development of pathology.
- Chemical factors. Food dyes, insecticides, taking toxic medications (cytostatics, DNA synthesis inhibitors, nicotinic acid), drinking alcoholic beverages during pregnancy significantly increase the risk of developing the syndrome.
- Metabolic disorders. The probability of hyaloid-retinal degeneration is much higher with metabolic disorders in the mother during pregnancy (diabetes mellitus, vitamin B12 deficiency, hypothyroidism).
Pathogenesis
The mechanism of Goldmann-Favre syndrome development is based on a genetic mutation. The NR2E3 gene is localized on chromosome 15g23 and is responsible for encoding a ligand-dependent receptor, which is one of the important transcription factors. Scientists were able to identify about 20 different mutations of this gene, the most common of which is R311Q. This genetic mutation causes a violation of the normal ratio of rods and cones, which leads to degenerative changes in the retina. Researchers believe that the occurrence of other anomalies (retinoschisis, vitreous lesion) in Goldman-Favre syndrome is associated with the G56R mutation. In the pathogenesis of hemeralopia, the leading role is assigned to rod-cone dystrophy, which develops a second time against the background of retinitis pigmentosa.
Symptoms
Clinical manifestations of the disease develop at the age of 5-10 years. The first signs of the syndrome are a decrease in visual acuity in the dark, which is due to a violation of dark adaptation and leads to hemeralopia (“night blindness”). The lesion of the eyes is bilateral. Visual dysfunction progresses rapidly. Patients complain about the appearance of “flies”, “shrouds”, round-shaped opacities in front of their eyes. With a severe course of the disease, orientation in space is difficult, which is most pronounced when moving into a room with poor lighting. In childhood, nyctophobia develops (fear of the dark).
Prolonged visual load leads to a feeling of “sand in the eyes”, burning and hyperemia of the orbital conjunctiva. Patients experience difficulties when reading, writing, working at a computer, which is due to a decrease in central vision. When the pathological process spreads to the macular area, patients note the appearance of “bright flashes” and distortion of the image in front of their eyes. In addition to eye symptoms, patients have bilateral congenital hip dislocation, paralysis of the lower extremities, mental retardation and other mental disorders.
Complications
The most common complications of pathology are retinal tears and detachment, caused on the one hand by a congenital form of retinoschisis, on the other by degenerative-dystrophic changes. It is characterized by the development of a rapidly progressive secondary cataract of the “cup-shaped” type, which requires early surgical intervention. When the vessels of the inner shell are damaged, hemophthalmos occurs, less often hyphema. Patients with this syndrome are more prone to joining inflammatory and infectious lesions of the uveal tract. The progression of the disease leads to blindness.
Diagnostics
To make a diagnosis, it is necessary to carry out a genetic DNA diagnosis. The technique makes it possible to identify a mutation of the NR2E3 gene. The complex of special ophthalmological examination includes:
- Visometry. Visual acuity is progressively decreasing. In most cases, increasing visual dysfunction leads to amaurosis, but emmetropia persists for a long time against the background of treatment.
- Computer refractometry. The technique makes it possible to identify the hypermetropic type of clinical refraction. In most cases, there is a medium or high degree of hypermetropia, less often – a myopic type of refraction.
- Perimetry. A narrowing of the visual field in a concentric type, ring-shaped scotomas, is visualized. With a prolonged course of pathology, there is a “tubular” deformation of the visual field.
- Ultrasound of the eyes. With the help of ultrasound, degenerative changes of the vitreous body (dilution, the presence of floating opacities) with the formation of multiple membranes, preretinal filaments and strands are detected.
- Ophthalmoscopy. When examining the fundus, an ophthalmologist reveals pigmented and degenerative changes in the inner shell of the eye. The peripheral parts of the retina are gray. The pigment is deposited by the type of polymorphic lumps or “bone bodies”. The color of the pigment deposits varies from light brown to black. The morphological picture of dystrophy resembles “snail tracks”. Retinoschisis is localized in the peripheral (more often in the lower temporal quadrant), rarely in the central departments.
- Electroretinography. The decrease or complete absence of α- and β-waves on the electroretinogram is determined.
- Biomicroscopy of the eye. It is used to identify secondary changes in the conjunctiva and cornea. With a complicated course of the disease, clouding of the lens is detected.
- Optical coherence tomography (OCT). It is used for opacities of optical media. With the help of the technique, elongated retinal vessels are determined, less often – angiomatous formations. Retinal tears are localized at the dentate line. Partial bilateral atrophy of the optic nerves is revealed.
Differential diagnosis is carried out with Werner’s syndrome, Wagner’s disease. What is common in the clinical picture of Werner syndrome and Goldmann-Favre syndrome is retinal pigment degeneration, a high probability of developing cataracts, and an autosomal recessive type of inheritance. Distinctive features are a small degree of exophthalmia, chorioretinitis, lack of eyelashes and sparse eyebrows. Wagner’s disease is transmitted by autosomal dominant type. The first manifestations occur at the age of 8-10 years and reach full development by 30-35 years. Visual acuity decreases gradually. Clinical refraction is of the myopic type.
Treatment of Goldmann-Favre syndrome
The choice of therapeutic tactics is determined by the nature of the eye lesion. Etiotropic methods of treatment have not been developed. Symptomatic conservative therapy requires the appointment of:
- Angioprotectors. Drugs of this group normalize the permeability of the vascular wall, reduce the severity of edema and improve metabolic processes.
- Antiplatelet agents. Medicines slow down the process of platelet aggregation, have an anti-inflammatory effect. In this disease, the use of acetylsalicylic acid, ticlopidine or dipyridamole is indicated.
- Vasodilators. Vasodilators improve the supply of oxygen to tissues, microcirculation and rheological properties of blood. In the treatment of the disease are used: pentoxifilin, vinpocetine, cinnarizine.
- Vitamin therapy. The purpose of rutin, which is part of the flavonoid group, is shown. In combination with ascorbic acid, it reduces the fragility of capillaries and their permeability.
Patients are shown to perform preventive laser coagulation of the retina in the area of retinoschisis and ruptures. Surgical treatment of detachment of the inner shell of the eyeball is difficult due to anatomical features. It is possible to perform sclera filling. With the development of cataracts, extraction is necessary, followed by implantation of an intraocular lens. All surgical interventions are accompanied by pronounced exudation, therefore, they require the appointment of proteolytic enzyme inhibitors and corticosteroids in the preoperative period.
Prognosis and prevention
The prognosis for Goldmann-Favre syndrome depends on the severity and features of clinical manifestations. Timely symptomatic therapy can prevent irreversible vision loss. For the purpose of early detection of pathology, prenatal diagnostics is carried out, which is indicated in the presence of the disease in the parents, signs of multiple malformations of the eyeball according to the results of ultrasound. Specific methods of prevention have not been developed. Non-specific preventive measures are reduced to preventing the effects of teratogenic factors (ionizing and ultraviolet radiation, medicines, chemicals, alcoholic beverages).
