Method for predicting the flow of pigment retinitis

FIELD: medicine, ophthalmology.

SUBSTANCE: one should analyze patient's genealogy, optic coherent tomography of ocular retina. According to tomogram one should evaluate the transparency of photoreceptors layer and its thickness, and, also, retinal thickness in the center. Under condition of autosomo-recessive type of inheritance and availability of retinal thickness in the center being 110±3.6 mcm and thickness of photoreceptors layer being 52.13±1.4 mcm it is possible to predict unfavourable disease flow. And under condition of autosomo-dominant type of inheritance and availability of retinal thickness in the center being 139±2.4 mcm, the thickness of photoreceptors layer being 73.43±2.6 mcm one should predict favorable disease flow. Moreover, in case of both flows of pigment retinitis the transparency of photoreceptors layer is shifted towards white color against standard chromatic scale of the device. The application of the present innovation enables to increase accuracy of detecting the above-mentioned disease in early juvenile age and provides the chance to evaluate its flow.

EFFECT: higher accuracy of prediction.

2 ex

 

The present invention relates to medicine, namely to ophthalmology.

Retinitis pigmentosa is the most common inherited form of blindness. Despite the significant prevalence and disabling the severity of the process, the problem of pigmentary retinitis far from being resolved. Clinical and genetic studies are scientifically substantiated the role of heredity in the Genesis of the disease. It was found that the recessive type of inheritance and X-chromosomal form of the disease occurs heavier than the dominant noted earlier onset and rapid progression of the process with early-onset blindness in 30-40 years.

There is a method of forecasting pigment retinitis by determining the form and amount of electroretinography and their relation to the type of inheritance (see Samsonova A. M. Hereditary and congenital diseases of the retina and optic nerve. - M.: Medicine. - 2001. - P.59-63).

However, the results of these studies have been questioned, and it was suggested that it is unlikely there are tests to divide the hereditary types of pigment retinitis.

The closest is a method for predicting disease by determining the genealogical analysis, and determine the type of inheritance for the identification of the gene (see Levchenko O.G., S.L., Pisarevsky, Baba is Genova L.D. Congenital retinal pathology in children. - Tashkent: publishing house of honey. lit. kuabu Ali Ibn Sina, 1997. - S.43-46). When the dominant type of inheritance in the presence of the disease in one parent, the probability of infection in children is 22.5%. Mutations that cause this form of pigmentary retinitis, identified in two genes of rhodopsin and peripherin/RDC.

Gene rhodopsin is the first identified gene, mutations in which cause the development of autosomal dominant retinitis retinitis. Gene peripherin/RDC determines a slow degeneration of the retina. This gene is a specific transmembrane protein localized in the outer segments of the photoreceptors.

When the recessive type of inheritance, if the parents, brothers and sisters are heterozygous (AA) or homozygote (AA), they are genetically and phenotypically healthy. When the marriage of two heterozygous carriers of the abnormal gene to expect patients and clinically healthy children. In the presence of recessive forms TRA one child in the family, the probability of infection for each subsequent child is 25%. The probability of illness from two healthy parents, but who have sick relatives, equal to 34.5%. Autosomal recessive abiotrophy retina is also genetically heterogeneous identified 8 genes.

Medico-genetic the advice, the study of the human genome, the development of methods for DNA-diagnostics of hereditary diseases open the way for early diagnosis and treatment of hereditary pathology. Today, however, the method is very time-consuming, costly, is only possible in large genetic centers (Moscow, St. Petersburg, Tomsk), which limits its use in the clinic.

The technical result of the proposed method is able to accurately detect the disease in early childhood, to assess the severity of its course and begin early treatment.

New to the achievement of the technical result is that spend optical coherence tomography of the retina (Optical Coherent Tomography-OCT) and evaluate OST-the tomogram.

New is also that by reducing the thickness of the retina and the layer of photoreceptors in the periphery and in the centre, as well as reducing their transparency compared to the norm forecast for pigment retinitis.

Conducting optical coherence tomography (OCT) allows you to review and evaluate the status of all layers of the retina with high accuracy. OST is a research method that allows to obtain images of various tissues of the body at the morphological level with high resolution (10-15 μm). Information about fabric obtained by using OST, is what I lifetime, i.e. reflects not only the structure, but the features of the functional state of the tissue. The image of research results is expressed by color and depends on the optical density of the media eye. OST non-invasive, avoids injury, which is very important when examining young children. The possibility of multiple research and preservation of the results in the computer's memory allows us to trace the dynamics of the pathological process.

Evaluating data OST, the authors found that along with the decrease in the transparency of the layer of photoreceptors decreases its thickness on the periphery and in the Central regions of the retina, as well as the thickness of the retina. Indicators thickness of photoreceptors and retinal reliable not only on t but also on the f-criterion, which take into account when comparing any of the indicators, along with averages and dispersion. Comparing the obtained data with the type of inheritance, the authors noted that while the autosomal recessive inheritance of the disease, the thickness of the retina 110±3,6, and with autosomal dominant - 139±2,4 at P<0,001. It is known that when an autosomal dominant type of inheritance, the disease develops later and is more favorable than for autosomal recessive and sex-linked. Thus, evaluating the tomogram of the retina, the authors define the type of inheritance Zab the diseases and predict the course of the pigment retinitis.

Comparative analysis of the proposed method and the prototype shows that the proposed method differs in that it is held optical coherence tomography of the retina, evaluate the tomogram and by reducing the thickness of the retina and the layer of photoreceptors in the periphery and in the center of the retina, as well as reducing their transparency compared to the norm forecast for pigmentary retinitis, which corresponds to the criterion "novelty".

A new set of features provides the ability to accurately detect the disease in early childhood, to assess the severity of its course and begin early treatment, to reduce the time of study that meets the criterion of "industrial applicability".

The method is as follows.

The research is being done on the machine OST-2000 manufactured by Carl Zeiss Meditec (Humphrey division). The length of the scan is set to 3 mm, the Power of the emitter - 750 mW and 500 mW. Scans of the Central regions of the retina within 30 degrees from the fixation point. The obtained tomograms estimate the thickness of the retina and the layer of photoreceptors relative to standards, and the transparency of the layer of the photoreceptor relative to the standard color scale of the instrument. In normal (control group) thickness of the retina is 251,83±0.9 µm - paramacular and 149,9±1.1 µm in the center, the thickness of soavtorscenariev 90,08± of 1.17 μm. When an autosomal recessive type of inheritance of the disease, the thickness of the retina paramacular 248,19±2,2 µm in the center 110±the 3.6 μm, the thickness of the layer of photoreceptors 52,13±1.4 µm. When an autosomal dominant type of inheritance, the thickness of the retina paramacular 250,3±0.9 µm in the center 139±2.4 μm, the thickness of the layer of photoreceptors 73,43±2,6 µm. Decrease the opacity of the layer of photoreceptors is expressed in the color palette changes the layer of photoreceptors in the white color. Normally, the layer of photoreceptors presents dark stripe, which is determined on the tomogram directly in front of the complex "pigment epithelium-choriocapillaris".

The proposed method is illustrated by the following clinical examples.

Example 1. Patient M., age 10. When pedigree analysis revealed that great-grandmother patient suffered pigment retinitis, and also retinitis pigmentosa was diagnosed in aunt (cousin of the mother of the patient).

At the time of inspection the child no complaints. Visual acuity of 1.0, the field of view a total of 8 meridians - 523 degrees. When inspecting the condition of the anterior segment of the eye without features. Optical transparent environment. The fundus of the eye: optic nerve disc is not changed, the Central departments and the visible periphery of the retina without features, marked pathological reflexes in the course of the vessels. We found a decrease in dark adaptation to 98 seconds, UD is inania latency time b-wave of electroretinogram - 45 msec. On the tomogram of the retina: retina thickness of 110 μm in the center, 250 μm on the edge of the macula. The thickness of the layer of photoreceptors - 52 μm, the transparency of the photoreceptor is reduced. Based on the survey data diagnosed with retinitis pigmentosa. Latent stage. An autosomal recessive mode of inheritance. Perhaps an early manifestation of the disease with rapid progression. The prognosis is poor. Recommended clinical supervision, it is expedient to prescribe in the latent stage of the disease.

Example 2. Patient S., age 9. Analysis of the pedigree 4 generations showed that the transmission of the disease is passed from generation to generation. Cheer both men and women. Retinitis pigmentosa have the baby's father, uncles and aunts (own brother and father's sister), cousin. Also pigmented retinitis was sick grandmother and great-grandfather of the patient (the mother and the grandfather of the father). Child no complaints. Visual acuity of 1.0, the field of view a total of 8 meridians - 523 degrees. When inspecting the condition of the anterior segment of the eye without features, transparent optical medium, the condition of the fundus - without features. We found a decrease in dark adaptation to 48 seconds, the latency of the b-wave of electroretinogram 42 sec. On the tomogram of the retina: retina thickness in the center of 141 μm, on the edge of the macula, a 250 μm. The thickness of the layer of photoreceptors 75 μm, prozracnost the photoreceptor is reduced. Based on the survey data diagnosed with retinitis pigmentosa. Latent stage. Autosomal dominant inheritance. The prognosis is favorable. Recommended dynamic observation of the patient.

A method for predicting the course of pigmentary retinitis, including pedigree analysis, wherein spend optical coherence tomography of the retina and evaluate the tomogram of the transparency of the layer of photoreceptors and its thickness, and the thickness of the retina in the center and provided an autosomal recessive type of inheritance and the presence thickness of the retina in the center 110±the 3.6 μm and the thickness of the layer of photoreceptors 52,13±1.4 µm predict an unfavorable course of the disease, and provided an autosomal Dominator type inheritance and availability of the thickness of the retina in the center 139±2.4 μm, the thickness of the layer of photoreceptors 73,43±2,6 µm predicts favorable course of the disease, and when Tom and another for pigmentary retinitis transparency of the layer of photoreceptors is shifted to white color, relative to the standard color scale of the instrument.



 

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