RU2400137C1 - Diagnostic technique for connective tissue dysplasia - Google Patents

Abstract

FIELD: medicine.

SUBSTANCE: invention refers to medicine, particularly to diagnostic techniques for connective tissue dysplasia (CTD) and can be used in ophthalmology. The external inspection of the eye region is performed. If detecting a short palpebral fissure 26 to 23 mm, connective tissue dysplasia is diagnosed.

EFFECT: method allows improving accuracy of CTD diagnosing.

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Description

FIELD OF THE INVENTION

The invention relates to medicine, in particular, to methods for diagnosing connective tissue dysplasia, and can be used in ophthalmology.

State of the art

A known method for the diagnosis of connective tissue dysplasia (DST), based on the visual detection of external phenotypic signs characteristic of this pathological condition, examines the iris of the eye and, if a radial-lacunar type of the iris is detected, connective tissue dysplasia is diagnosed (see US Pat. RU No. 2157104, class A61B 10/00, published on 10/10/2000).

The disadvantage of this method is the low accuracy of diagnosis of DST.

A known method for the diagnosis of connective tissue dysplasia is based on the visual detection of external phenotypic signs characteristic of this pathological condition, along with short eye slits (see "The role of the family doctor in protecting adolescent health: VI. Connective tissue dysplasia and their recognition. / A .M. Kulikov, V.P. Medvedev. // Russian family doctor. - 2000. - No. 4. - P.37-51).

The disadvantage of this method is the low accuracy of diagnosis of DST.

The closest in technical essence and the achieved positive effect and adopted by the authors for the prototype is a method for the diagnosis of connective tissue dysplasia, based on the visual detection of external phenotypic signs characteristic of this pathological condition with the detection of a short eye gap (see Connective tissue dysplasia of the cardiovascular system. A. Y. Belgov. - SPb., 2003 .-- 47 p.).

The disadvantage of this method is the low accuracy of diagnosis of DST.

Disclosure of invention

The objective of the invention is to develop a method for the diagnosis of connective tissue dysplasia, based on the visual detection of external phenotypic signs characteristic of a given pathological condition with the identification of a short palpebral fissure with diagnostic accuracy, early detection of DST and lower diagnostic costs.

The technical result that can be obtained using the present invention is reduced to accuracy, early detection and lower costs for the diagnosis of DST.

The technical result is achieved using a method for the diagnosis of connective tissue dysplasia, based on visual detection of external phenotypic signs characteristic of a given pathological condition with the identification of a short gap, while an external examination of the eye area is performed and, when a short eye gap of 26 to 23 mm is detected, connective tissue dysplasia is diagnosed .

The essence of the proposed method for the diagnosis of connective tissue dysplasia is as follows.

To diagnose connective tissue dysplasia, based on visual detection of external phenotypic signs characteristic of this pathological condition, an external examination of the eye area is performed and when a short eye gap is detected from 26 mm to 23

Thus, with the visual detection of external phenotypic signs with a short and narrow eye slit, an exact diagnosis of connective tissue dysplasia was not established, but with the visual detection of external phenotypic signs with a short eye slit from 26 mm to 23 mm, an accurate diagnosis of connective tissue dysplasia was established.

Brief Description of the Drawings

Figure 1 is a method for the diagnosis of connective tissue dysplasia, the length of the palpebral fissure 30 mm

Figure 2 is the same, the length of the palpebral fissure is 27 mm.

Figure 3 is the same, the length of the palpebral fissure is 23 mm.

The implementation of the invention

Examples of specific performance of the method for the diagnosis of connective tissue dysplasia

Example 1

Surveyed G., 26 years old, turned to the Clinic for Microsurgery of the Eye of StGMA with complaints of eye fatigue after working at close range. On examination, the visual acuity of both eyes was 1.0, and the reserves of accommodation of both eyes were 2.0 D. The diagnosis was made: a spasm of accommodation of both eyes. No changes in the dysplastic nature of the visual analyzer were detected, the length of the palpebral fissures is 30 mm. After a 10-day course of installations of a 2.5% solution of irifrin, the accommodation reserves of both eyes were 10.0 D. The total somatic growth was 164 cm, the type of physique was normosthenic, type III of the earlobe, microtia. This example illustrates the absence of connective tissue dysplasia with normal sizes of the palpebral fissure.

Example 2

Studenka M., 22, during a cycle in ophthalmology, asked for an ophthalmological examination. No complaints. On the part of the organ of vision, it was found: a moderately short palpebral fissure (28 mm), tortuosity of the vessels of the sclera conjunctiva, pigment spot of the iris, pigment fringe hypoplasia, residual pupillary membrane, densification of the lens sutures, filamentous destruction of the vitreous, redistribution of the pigment retinal pigmentosa , short anteroposterior axis of the eyeball. These changes initiated a search for general somatic signs of connective tissue dysplasia, the patient showed fossa on the chin, type III earlobe, bifurcation of the tragus, trident II-IV on the foot, joint hypermobility 3 points according to Beighton. Echocardiography confirmed the diagnosis of connective tissue dysplasia by detecting hemodynamically insignificant mitral valve leaf prolapse. This example shows the dependence of the degree of dysplastic lesion of the body on the severity of the symptom of a short palpebral fissure, i.e. with a short slit from 29 to 27 mm, a lower level of stigmatization is noted than in cases of pronounced shortening of the palpebral fissure - from 26 to 23 mm. In the second option, a thorough cardiological examination of the patient is necessary with the aim of early detection of various life-threatening abnormalities, adequate drug therapy. When identifying a moderately short palpebral fissure, it is recommended that the regime of physical activity and the correct professional orientation with the exception of emotional and physical overload.

Example 3

Patient P., 18 years old, turned to the Eye Microsurgery Clinic StGMA with complaints of decreased vision in both eyes, more than the right. The examination revealed the following changes on the part of the organ of vision: sinofreeze, ocular hypertelorism, antimongoloid eye incision, short (24 mm) and narrow (9 mm) palpebral fissures, microcornea, folds of the conjunctiva above the lower eyelid, heterochromia, hypoplasia of the superficial mesoderm of the iris , point opacities in the posterior cortical layers of the lens, thinning of the root of the iris, fibers of the comb ligament, strongly refracting cornea, short anteroposterior axis of the eyeball. The decrease in vision was due to the development of keratoconus of the right eye and the presence of weak hypermetropia of the left eye. Taking into account the large number of detected ophthalmic stigmas, the patient was recommended to consult a physician (cardiologist) to identify somatic signs of dysmorphogenesis and ultrasound of the heart. The diagnosis of connective tissue dysplasia was established on the basis of ultrasound data (mitral valve prolapse with mitral regurgitation of the II degree, multiple abnormally located chords in the cavity of the left ventricle) and the presence of a gothic palate in the patient, true progeny, type III earlobe, microtia, free teeth the edge of the curl, hyperextension of the distal phalanges of the first fingers, the two-prong II-III on the foot, longitudinal flatfoot. In this example, the presence of a short palpebral fissure (24 mm) stimulated the search for other manifestations of connective tissue dysplasia and led to an early diagnosis of the syndrome with severe minor heart anomalies. The patient needs medical examination, further examination and treatment.

Example 4

Patient S., 21, was undergoing treatment in the therapeutic department of the Regional Clinical Hospital in Stavropol with a diagnosis of chronic obstructive pulmonary disease, stage of exacerbation. An additional examination of the patient revealed the presence of her connective tissue dysplasia syndrome. The following external phenotypic signs were found: asthenic body type, high palate, uneven upper and lower dentition, type III earlobe, microtia, denticles on the free edge of the curl, pterygo-shaped scapula, scoliosis of the thoracic spine, arachnodactyly, hyperextension of the distal phalanges of the first fingers, " sandal-shaped slit ”on the foot, longitudinal flatfoot, joint hypermobility syndrome (4 points according to Beighton). An echocardiographic study confirmed the diagnosis: mitral valve prolapse of the 1st degree, atrial septal aneurysm, an abnormally located chord in the cavity of the left ventricle. Examination by an ophthalmologist revealed: short (23 mm) and narrow (9 mm) palpebral fissures, ocular hypertelorism, epicanthus, ptosis of the eyelids, blue sclera, heterophoria, tortuosity of the vessels of the conjunctiva of the sclera, conjunctival folds above the lower eyelid, hypoplasia of the superficial mesodermal sheet , partial destruction of the pigment fringe, point opacities in the anterior cortical layers of the lens, linear opacification of the posterior lens capsule, spindle-shaped cataract, Mittendorf point with a rudimentary hyaloid artery, filament I floater, a change in the caliber of retinal blood vessels, the concentration of pigment around the optic disc, complicated inverse hyperopic astigmatism in both eyes. The first sign was identified without the use of special ophthalmic equipment. In this example, a high degree of stigmatization is demonstrated, which requires an in-depth examination, medical examination and prescription of drug therapy in a patient with pronounced shortening of the palpebral fissure.

When assessing the number of general and ocular stigma in individuals with normal and short palpebral fissures of varying severity, the following results were obtained (table).

The number of ocular and external somatic stigma in individuals with varying degrees of severity of shortening of the palpebral fissure (X ± s) Stigma The degree of shortening of the palpebral fissure in patients with DST Control group 30 mm and more 29-27 mm 26-23 mm Eye 9.6 ± 0.5 * 10.8 ± 0.4 *, ** 12.4 ± 0.7 *, ** 2.4 ± 0.4 Somatic 5.4 ± 0.4 * 5.5 ± 0.4 * 6.7 ± 0.6 * 2.6 ± 0.3 Total 14.9 ± 0.7 * 16.2 ± 0.7 * 19.1 ± 1.2 *, **, *** 5.1 ± 0.6 * - p <0.05 in comparison with the control; ** - p <0.05 compared with the group without shortening the palpebral fissure; *** - p <0.05 compared with the group with moderate shortening of the palpebral fissure

It was found that for all patients with DST, regardless of the length of the palpebral fissure, a greater number of ophthalmic changes is characteristic than in practically healthy individuals. In the presence of a short palpebral fissure, dominance is observed in the number of ocular signs of dysmorphogenesis over a group without this symptom, both with small and significant severity. The prevalence of external somatic stigma over control was in all the presented groups, as well as manifestations of dysembryogenesis throughout the body. With pronounced shortening of the palpebral fissure, a greater level of stigmatization of the body as a whole was observed compared with patients with DST who do not have this symptom and with a moderate severity of deviation from the norm.

The invention in comparison with the prototype and other known technical solutions has the following advantages:

- early detection and accuracy of diagnosis of DST;

- reducing the cost of diagnosing DST.

Claims (1)

A method for the diagnosis of connective tissue dysplasia, based on the visual detection of external phenotypic signs characteristic of this pathological condition with the identification of a short palpebral fissure, characterized in that an external examination of the eye area is performed and, when a short palpebral fissure from 26 to 23 mm is detected, connective tissue dysplasia is diagnosed.

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