Blue (blue) sclera: causes, symptoms, diagnosis, treatment

Blue (blue) sclera can be a symptom of a number of systemic diseases.

"Blue sclera" is most often a sign of Lobstein-van der Heve's syndrome, which belongs to the group of constitutional defects of connective tissue, due to numerous genetic injuries. The type of inheritance is autosomal dominant, with high (about 70%) pervetrence. Occurs infrequently - 1 case for 40-60 thousand newborns.

Key symptoms of blue sclera syndrome are: hearing loss, bilateral blue (sometimes blue) coloring of the sclera and increased brittle bones. The most constant and most pronounced sign is the blue-blue color of the sclera, which is observed in 100% of patients with this syndrome. Blue scleras are caused by the pigment of the choroid membrane radiating through the thin and especially transparent sclera. In studies, thinning of the sclera, a decrease in the number of collagen and elastic fibers, a metachromatic color of the main substance, indicating an increase in the content of mucopolysaccharides are recorded, indicating immaturity of fibrous tissue in the syndrome of "blue sclera", the persistence of embryonic sclera. There is an opinion that the blue-blue color of the sclera is due not to its thinning, but to the increase in transparency as a result of changes in the colloidal-chemical qualities of the tissue. Based on this, the most correct term for this pathological condition is the "transparent sclera".

Blue sclera in this syndrome are determined immediately after birth; they are more intense than in healthy newborns, and do not disappear at all by the 5th-6th month, as is usually the case. The size of the eyes, in most cases, is not changed. In addition to blue sclera, other abnormalities of the eye may be observed: anterior embryotoxone, iris hypoplasia, zonal or cortical cataract, glaucoma, color blindness, corneal opacity, etc.

The second sign of the syndrome of "blue sclera" - brittle bones, which is combined with weakness of the ligamentous-articular apparatus, is observed in approximately 65% of patients. This symptom can appear at various times, on the basis of what distinguish 3 types of the disease.

• The first type is the most severe lesion, in which fractures appear in utero, during childbirth or soon after birth. These children die in utero or in early childhood.
• In the second form of the "blue sclera" syndrome, fractures occur in early childhood. The prognosis for life in such situations is favorable, although due to numerous fractures that are formed unexpectedly or with a slight effort, dislocations and subluxations there are disfiguring deformations of the skeleton.
• The third species is characterized by the appearance of fractures at the age of 2-3 years; the number and danger of their occurrence decreases with time to the pubertal period. The root causes of bone brittleness are the extreme porosity of the bone, the deficiency of calcareous compounds, the embryonic character of the bone and other manifestations of its hypoplasia.

The third sign of the syndrome of "blue sclera" is a progressive decrease in hearing, which is a consequence of otosclerosis and underdevelopment of the labyrinth. Hearing loss develops in about half (45-50% of patients).

From time to time, the typical triad in the "blue sclera" syndrome is combined with various anomalies of the mesodermal tissue, of which congenital heart disease, "wolf mouth", syndactyly and other anomalies are most often found.

Treatment of the syndrome of "blue sclera" is symptomatic.

Blue sclera can also be in patients with Ehlers-Danlos syndrome - a disease with a dominant and autosomal recessive type of inheritance. Ehlers-Danlos syndrome begins at the age of up to 3 years and is characterized by increased skin elasticity, fragility and vulnerability of the vessels, weakness of the joint-ligament apparatus. Often these patients have microcornea, keratoconus, subluxation of the lens and retinal detachment. Weakness of the sclera sometimes leads to its rupture, including with minor injuries of the eyeball.

Blue scleras can also be a sign of the oculo-cerebro-renal syndrome Lovet - an autosomal recessive disease that affects only boys. In patients with a birth, cataracts with microphthalmia are detected, 75% of patients have increased intraocular pressure

[1], [2], [3]