TAPETORETINALNY DYSTROPHIES

From Big Medical Encyclopedia

TAPETORETINALNY DYSTROPHIES (Latin tapete carpet, cover + late lat. retina mesh cover; Greek dys-+ trophe food; synonym: tapetoretinalny degenerations, tapetoretinalny abiotrophy) — hereditary dystrophic diseases of a retina, the general sign to-rykh is pathological change of its pigmental epithelium. Clinically are Etc. shown, as a rule, at children's or youthful age, are characterized by gradual decrease in visual functions up to a slabovideniye or a blindness at mature or advanced age.

The terms «tapetoretinalny dystrophy» and «tapetoretinalny degeneration» are standard, however in them the hereditary nature of process is not reflected. The term «abiotrophy» offered U. Govere in 1902 for definition of the hereditary diseases of nervous tissue which are characterized by decrease in its viability. In 1919 Collins (T. Collins) applied this term to definition of hereditary diseases of a retina (see).

Depending on localization patol. process in peripheral or central department of a retina distinguish peripheral and central Etc. To peripheral Etc. carry pigmental dystrophy of a retina, white-dotted dystrophy of a retina (including a white-dotted eyeground), a zheltopyatnisty eyeground, a kongenitalny stationary night blindness. Central Etc. include macular dystrophies — dystrophy of Shtargard-ta, dystrophy Vera and Best's dystrophy. The most common form Etc. is pigmental dystrophy of a retina, the others Etc. meet less often, are studied insufficiently.

Peripheral tapetoretinalny dystrophies. Pigmental dystrophy of a retina (synonym: a pigmental retinitis, a pigmental degeneration of a retina, a pigmental retinal abiotrophy, palochkokol-barrel dystrophy) for the first time it was rather in detail described And. Gref in 1858. According to François (J. Francois, 1963), it is inherited on autosomal recessively type in 37,5% of cases, autosomal domi-nantnomu in 19,5% of cases, it is linked to a floor in 4,5% of cases. In 39,5% of cases the disease arises sporadic.

The pathogeny of pigmental dystrophy of a retina is studied insufficiently. There are different views on the reasons of development and a pathogeny of a disease. Supporters of the vascular theory consider that it is connected with a sclerosis of an idiovascular cover of an eyeglobe (horio-idea) and disappearance of its choriocapillary layer (a vascular and capillary plate, T.). Other scientists attach significance to endocrine disturbances, insufficiency of vitamin A, toxic and infectious factors. In recent years the attention to a possible role of immunoinsufficiency in a pathogeny of pigmental dystrophy of a retina is paid. B. B. Fuchs in the pilot studies conducted in 60 — is the 70th 20 century, revealed that at pigmental dystrophy of a retina is available retinal disnukleotidoz (balance upset between components in an intracellular nucleotide pool), to-rogo primary change of derivatives of guanylic acid is the cornerstone (see).

The earliest change in a retina is destruction of cells of a neuroepithelium (sticks and flasks), up to their disappearance. First of all sticks are exposed to destruction. These changes arise at first in peripheral department of a retina, extending then in the central department. In rare instances preferential central department of a retina (the central form of pigmental dystrophy of a retina) or the limited sektoroobrazny site of a retina (a sectoral form) is surprised. With incremental destruction and disappearance of cells of a neuroepithelium the quantity of glial cells and fibers increases, to-rye fill the released space. The pigmental epithelium in the respective areas of a retina as it was shown at autoradio graphic researches, changes, forming figures of «curls». Disappearance of phagosomas in cells of a pigmental epithelium is noted. Pigment cells migrate to inner layers of a retina, often are located around vessels. Due to the proliferation of glial fabric and migration of pigment cells blood circulation in a capillary network is broken.

Fig. 1. The given perimetria at an initial stage of pigmental dystrophy of a retina (the border of a field of vision is designated by the fat line; ring-shaped scotoma — black color).

More than in 95% of cases the disease is shown aged up to 30 years. As a rule, both eyes are surprised. The first symptom of pigmental dystrophy of a retina is decrease in sight in the dark (see. Gemeralopiya ), defects of a field of vision (see Scotoma), decrease in visual acuity (see), changes of an eyeground appear later (see). Characteristic defect of a field of vision (see) is ring-shaped scotoma (fig. 1), edges during the progressing of a disease extends both to the center, and to the periphery of a field of vision and leads to its concentric narrowing (tubular, or tunnel, a field of vision). At the same time, despite rather high central sight, a cut many years can remain, sharp disturbance of orientation leads to an invalidism. Sometimes at a research of a field of vision reveal central (at the central form of pigmental dystrophy of a retina) or sectoral (at a sectoral form) scotoma.

Fig. 2. Fragments of fluorescent angiograms of an eyeground at pigmental dystrophy of a retina: shooters specified pigmental deposits in the form of so-called bone little bodies (a) and spots.

At oftalmoskopiya (see) on an eyeground usually find pigmental deposits in a retina, a wax-like atrophy of an optic disk (see), narrowing of arterioles of a retina. Pigmental deposits are located, as a rule, on the periphery of a retina, often around veins, and usually have an appearance of the typical pigmental centers reminding in a form of an osteotspta or so-called bone little bodies (fig. 2, a). Pigmental deposits can have also the form glybok, mosaics, spots (fig. 2,6). In rare instances pigmental deposits in a retina can be absent (a pigmental retinitis without pigment). At the central form of pigmental dystrophy they are located preferential in the central department of a retina, at a sectoral form the sektoroobrazny arrangement of a pigment on an eyeground is noted. In a late stage of a disease zones of an atrophy of a choriocapillary layer of an idiovascular cover of an eyeglobe come to light. In some cases pigmental dystrophy of a retina is followed by development of the complicated back cortical cataract, glaucoma with an open corner of an anterior chamber (an angle of iris. T.), myopias.

Make an elektroretinografiya for diagnosis of pigmental dystrophy (see). On the electroretinogram (ERG) the expressed decrease in amplitude of waves is in most cases noted.

The disease slowly progresses, coming to the end in most cases with a blindness.

In addition to an independent disease, pigmental dystrophy of a retina can be one of displays of various hereditary diseases — an amaurotic idiocy (see), Laurence's syndrome — Muna — Bidlya (see Laurence — Muna — B of ides la a syndrome), the syndrome described by Asher (S. N. Usher) — combinations of pigmental dystrophy of a retina to a hearing impairment that, apparently, is connected with simultaneous defeat of a pigmental epithelium of a retina and the epithelium of kortiyevy body having homogeny.

The numerous attempts of treatment of a disease including use of vitamin A, vasodilators, anticoagulants, corticosteroids did not yield positive takes. Intramuscular injections Riboflavinum mononucleotide or ATP along with long reception of vasodilating drugs are recommended (a kompla-mine, etc.). For treatment of pigmental dystrophy of a retina and others Etc. use drugs, ribonucleotides are a part to-rykh.

White-dotted dystrophy of a retina is described Thin (A. Moogep) in 1882. It is inherited usually on an autosomal recessive noma to type. It is shown at early age by a hemeralopia, the progressing narrowing of a field of vision, anomaly of color sensation. On an eyeground reveal multiple white spots and in some cases pigmental deposits, narrowing of arteries, blanching of an optic disk. The ERG usually is absent, in nek-ry cases it is a subnormalna. The disease progresses more slowly, than pigmental dystrophy of a retina. Treatment is same, as at pigmental dystrophy of a retina. Forecast favorable.

A kind of white-dotted dystrophy of a retina is the white-dotted eyeground. At this disease the hemeralopia is noted, the field of vision and visual acuity remain normal. On an eyeground white spots come to light, to the ERG it is usually not changed. Treatments, as a rule, do not carry out. Forecast favorable.

The Zheltopyatnisty eyeground is described by A. Franceschetti in 1963. The mode of inheritance is not established. The disease is shown at the age of 10 — 25 years. In deep layers of a retina in the field of a back pole of the eyeball yellow or yellow-white spots are formed. Spots find accidentally at a research of an eyeground. Visual functions are not broken. To the ERG it is, as a rule, not changed, in rare instances of a subnormaln. Treatment is carried out at accession of dystrophy of macular area of a retina. The current is favorable, except for the cases which are complicated by dystrophy of macular area of a retina, at to-rykh visual acuity decreases.

The Kongenitalny stationary night blindness is for the first time described by J. Nougaret more than 300 years ago; it is inherited on autosomal dominants nomas, autosomal recessively or to the type linked to a floor. The disease is often combined with short-sightedness (see). The main symptom is disturbance of orientation in the dark. Visual acuity normal or lowered (0,7 — 0,4). The field of vision is not changed a thicket, in nek-ry cases is slightly narrowed. An eyeground, as a rule, without pathology. Sometimes at a combination of a disease to short-sightedness on an eyeground lack of a foveolyarny reflex and an easy depigmentation of a retina is noted. On the ERG decrease in amplitude of a wave is found «In». For the purpose of prevention of possible development of pigmental dystrophy of a retina the corresponding treatment is carried out (see above treatment of pigmental dystrophy of a retina).

Central tapetoretinalny dystrophies. Shtargardt's dystrophy is described in 1909 by Shtargardt (K. V. Stargardt). The disease is inherited on autosomal recessively or autosomal dominantly to type. Sporadic cases are possible.

At patogistol. researches of a retina find reduction or disappearance of flasks, proliferation, migration and partial disappearance of cells of a pigmental epithelium.

Fig. 3. The Oftalmoskopichesky picture of sites of an eyeground at Shtargardt (a) dystrophy and Best's dystrophy: and — in macular area of a retina the round atrophic center with light and dark impregnations is visible; — near an optic disk (1) the atrophic center (2) with deposits of a pigment on its periphery is visible (3).

Clinically the disease is shown in the first or second decade of life. In the beginning decrease in visual acuity is noted, the central scotoma is characteristic of a late stage. Peripheral departments of a field of vision are not changed. Dark adaptation is not broken (see. visual adaptation ). In macular areas of a retina of both eyes in process of progressing of a disease the symmetric centers of an atrophy of a round or oval form with inclusion in them of whitish-grayish or pigmental impregnations form. These centers come to light at a research of an eyeground (fig. 3, a). Treatment does not differ from treatment of pigmental dystrophy of a retina. The current progressing leads to considerable decrease in visual acuity up to a blindness.

Bør's dystrophy is described by Bør (S. Behr) in 1920. It is inherited usually on autosomal type of dominants nomas. On morfol. to signs and a wedge, a picture it is similar to Shtargardt's dystrophy, but unlike the last the disease is shown at mature age.

F. Best's dystrophy (viti-liformny dystrophy) is described by F. Best in 1905, is transmitted to a thicket on autosomal dominantly type, arise aged up to 7 years. On an eyeground in macular area there are round or oval focuses of yellowish-red color reminding egg yolk, the size from V2 to 4 diameters of an optic disk. Yellow material is gradually absorbed and on its place the round atrophic center with a pigment (fig. 3,6) appears. Visual acuity for many years, despite rough changes in macular area, can remain high. It decreases at formation of the atrophic center in the makul, the central scotoma at the same time develops. Dark adaptation is not broken. Color-blindness can be observed (on red and green colors). To the ERG it is not changed, in nek-ry cases change of an elektrookulogramma is noted (see Elektrookulografiya). Treatment is same, as at pigmental dystrophy of a retina.



Bibliography: Stukalov S. E. and Pisarenko S. L. Pigmental dystrophy of a retina, Voronezh, 1980, bibliogr.; Fuchs B. B. Materials to the analysis of a pathogeny of hereditary dystrophies of a retina, Vestn. USSR Academy of Medical Sciences, No. 10, page 29, 1978, bibliogr.; System of ophthalmology, ed] by S. Duke-Elder, v. 10, L., 1967.


L. A. Katsnelson.

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