Retinitis Pigmentosa

Abstract

In studying the cases with typical and atypical pigmentary degeneration of the retina we strived to analyse in the clinical material all ophthalmoscopic and ocular changes together with other somatic variations in these cases. We discovered thus some very rare forms of the clinical family of the retinitis pigmentosa which we are citing below. One case (T. K., aged 17 years, from Subotica, 1953) was concerned with a central type of the pigmentary retinitis with subsequent pointed pigmental changes in the region of the central macula on both eyes; the points were rather more pronounced on the right eye. Vision was the right 6/23, and to the left 6/9. Other clinical findings were negative in this case with the exception of the encephalographical ones which showed an enlargement of the right lateral ventricle, of the subarachnoidal spaces and of the cistern of the chiasma. In the fronto-parietal part of the brain there were two calcified focuses. From this positive encephalographical finding it followed that this was a case of common cerebro-retinal affection. Besides a case of a typical retinitis punctata albescens there were two other cases: first there was a fundus albipunctatus cum hemeralopia of a central type with variations in the macula, and second, a fundus albipunctatus cum hemeralopia of an extra-central and peripherical type. The patient with the fundus albipunctatus of the central type was C. K. aged 25 years, of Belgrade (1953), whom had little whitish points in the region of the central macula in the retina of both eyes, while the other part of the fundus was normal. The vision and its field of both eyes was normal, but the adaptation had diminished. The eye disease was stationary for 2 years and the heredity was dominant. The case with the peripherical and extra-central type of the fundus albipunctatus cum hemeralopia (D. J. aged 21 years, from Karlovac, 1953) showed little pointed and white alterations in the retina on the whole fundus of both eyes with the exception of the region of the macula. The vision was 6/9 for both eyes; the visual field was normal and the primary adaptation weaker than the secondary one. It was alleged that in the family a brother and a sister were suffering from the same disease. The affection had lasted for more than 10 years, and the actual findings suggest that it is of a stationary character. In one case (M. K., aged 25 years, of Belgrade, 1948) the atrophia gyrata retinae et chorioideae was identified. On both eyes of the patient existed a horizontal nystagmus, a cataracta corticalis posterior, whereas the retina and the choroid showed the typical image of an atrophia gyrata together with atrophia of the papilla of the optic nerve in both eyes with closely tightened arterial blood vessels of the retina. The vision of both eyes was 1/60; the visual field was concentrically narrowed and the adaptation had diminished. Encephalography disclosed a light frontal and occipital atrophy in the brain and in the region of the diencephalon. Among 4 casses of on infantile tapeto retinal degeneration the encephalographic finding showed in one case (K. M., aged 12 years, of Belgrade, 1953) beside a visible hydrocephalus, a strong dilatation of the lateral and third ventricles; the basic cisterns, too were enlarged. In one case (D. M., 35 years old, of Pojata, 1952) of a bilateral retinitis pigmentosa there was on both eyes a cystoid degeneration of the macula, so that a cavity originated in the right eye, accompanied by a shrinking of all retinal layers, with the exception of the pigmental one. As for the mono-ocular retinitis pigmentosa there was one case only (R. P. 53 years old, of Novi Pazar, 1947). Here the right eye was completely normal, having the vision of 6/6, but on the left eye there was a severe retinitis pigmentosa together with an amaurosis. The observation continued for 5 years and the finding remained always the same; the sero-reactions for the lues were negative.

In our whole pathological material of the typical and atypical pigmentary retinitis covering the years 1944-1953, 59 were treated, of which 41 men and 18 women, the male patients prevailing. Taking into account the fact that during this period altogether 63.279 new patients were examined, the pigmentary retinitis accounts for 0,9%0. As for the age of the, patients, 10 of them were from 1 to 10 years, 12 from 10-20, 16 from 20-30, 4 from 30-40, 11 from 40 to 50, 5 from 50-60, one patient being more than 60 years old. As regards the heredity, it could be established for want of exact information in 9 cases only, were it was dominant. The visual function was in all these cases more or less impaired: in 10 cases the vision was from 2 to 6 meters; in 34 cases it was the vision from 0,5/60 till 6/60; in cases it was from 6/60 till 6/18, and in 7 cases from 6/18 till 6/6. The field of vision showed concentrical contractions of different degree, and the primary and secondary adaptations were, as a rule, diminished.

As regards other ocular symptoms, there were three cases of bilateral horizontal nystagmus, furthermore one case of high myopia, two cases of convergent strabismus, one case of divergent strabismus, three cases of opacities c. vitrei, two of an bilateral cataracta corticalis posterior, six cases of initial or total cataract by patients between 45 and 65 years, one case of complicated cataract and ablatio retinae, two of simplex glancoma.

The total number of our 59 patients there were:
45 cases of the typical retinitis pigmentosa
1 case of the binocular retinitis pigmentosa of the central type
2 cases of the retinitis pigmentosa sine pigmento
1 case of the retinitis punctata albescens
1 case of f.undus albipunctatus cum hemeralopia of the central type
1 case of fundus albipunetatus cum hemeralopia of the peripheric    type
1 case of atrophia gyrata retiniae et chorioideae
1 case of a binocular cystoidaj degeneration of the macula by a binocular retinitis pigmentosa
1 case of an incomplete LMBB syndrome
1 case of a complete LMBB syndrome

Together with the study of cases of pigmentary retinitis by clinical symptomatology, our efforts aimed at establishing methods for an ulterior examination of the etiology of this disease. At the same time, with other clinical and laboratory examinations, we turned our attention to the basic metabolism, to the function of the kidneys, to the reaction in the cerebro-spinal liquor and to the encephalographic findings. As to the basic metabolism.us, it was found that of 20 examined cases it was normal in 5 cases; in 13 cases it showed the values from + 1% till + 7% ; in 2 cases of the typical retinitis pigmentosa it showed the values 11%, whereas the case of the complete LMBB syndrome showed 16% . The liquor reactions showed in one case a positive reaction Pandy and N. Apelt, and in three other cases a positive reaction after Pandy alone. The urine examination concerning the urobiline, the biliverdine, the ·bilirubine and the urobilinogene were not positive enough to suggest deterioration of the hepar functions in our cases.

Encephalographic examinations showed the following findings: in 18 cases of the typical pigmentary retinitis the examination was positive converning and atrophy of the diencephalon, a superior convexity of the brain and of its frontal part in 12 cases, in 6 cases there was an atrophy of the diencephalon. As for the two cases of LMBB syndrome an atrophy of the diencephalon existed there previously; in the second case of the incomplete LMBB syndrome, the atrophy of the diencephalon was found to be aggravated by an atrophy of the central part of the brain. In the same case of the atypical and central retinitis pigmentosa punctata, the findings were positive as for the frontal and niesencephalic atrophy, just as and in the case of the infantile and tapeto-retinal degeneration on both eyes where the hydrocephalus was clinically still visible. Thus, in all these 22 cases of the typical and atypical pigmentary retinitis, encephalographic examination yielded important findings regarding the pathological process in the brain, in the diencephalic region, in the superior convexity of the great brain and) in the frontal rpart of the brain. It is on account of these findings in the brain that we characterized the pigmentary retinitis as a systematical affection concerned with a cerebro-retinal syndrome, so that it might be necessary to change even the name of the pigmentary retinitis. One may suggest for this disease the name of “Degeneratio cerebro-retinalis pigmentosa”, and this new term would exactly bear the indications of the pathological process of the disease in the retina and in the brain.

In our cases we met furthermore with instances of hearing, i. e. surditas, in 5 cases, and a state of melancholiac depression in 4 cases.

In 45 cases of pigmentary retinitis a therapy of several kinds was tried differing from the current methods used in the treatment of the retinitis pigmentosa. Our therapy took the following forms:
1) menfonnon-folliculine injections
2) acetyl-holine, apelagrine injections
3) apelagrine-oleum jecoris injections
4) the subconjunctival and subcutaneous implantation of the preserved iplacenta
5) the retro-bulbary implantation of preserved placenta and brain of a corpse.
6) the implantation of the preserved placenta in the anterior chamber of the eye and subcutaneously.
The therapy with menformon-folliculine injections was applied to 7 patients. In 3 cases there was a slight improvement of vision and of visual field, in one case of both eyes. In one case there was an amelioration of vision of one eye; in the other 3 cases there were no therapeutic results. The application of acetilholine-apelagrine injections in two cases did not produce any results. The therapy by an intramuscular injection of apelagrine-oleum jecoris was applied in 11 cases and brought an improvement of vision only in 3 cases: in one case of both eyes, in cases of one eye, whereas in the remaining 8 cases there were no changes.

Five cases were treated by the subconjunctival implantation of the placenta. In 2 cases there was a weak amelioration of vision and of visual field, but in the other 3 cases the situation remained unchanged. With the retro-bu1bary implantation of the placenta, which was. applied in 2 cases, no amelioration was obtained, but with the implantation of the white substance from preserved brain there was a substantial improvement of vision in one case from 2/60 to 6/18 whereas the visual field broadened as much as 25°. In another case, applying the same therapy, an improvement of vision and of the visual field of both eyes took place.

The implantation of the preserved placenta in the anterior chamber of the eye together with a subcutaneous implantation on the legs-kin took place in ,15 cases. In 7 cases a binocular amelioration of vision and of the visual field was observed, whereas in 8 cases no improvement was marked. In all the cases where the amelioration of the vision took place, the adaptation was a little strengthened too.

As seen, it was the implantation of the preserved placenta in the chamber anterior the eye which produced the best therapeutic results; one can foreshadow good results regarding the retro-bulbary implantation of the preserved brain from a corpse too. An important part was played here by the kind of implantation, i. e. by that kind of implantation which exercised an internal action on the pathological process of the retina and thus on the reparation of a certain process. Our previous observations on this point emphasized that the operative insertion of the implanted matter in the very vicinity of the pathological process was of the greatest importance, and we stated that by following this therapeutical principle much better therapeutical results were obtained than by other proceedings. By concluding, on the basis of our findings, that the pigmentary retinitis was only a symptom of a cerebra-retinal affection, we underlined the special importance of retro-bulbary implantation    of the white substance of the brain, which therapeutical method may well prove – regarding its efficacy in the cases of the pigmentary retinitis – an equivalent to the implantation of the preserved placenta into the chamber anterior of the eye. Henschen discovered and proved by his experimental works that organical autolysates are able to exercises a specific stimulation on the tissues. He proved that the milled substance of the brain exercised an attractive action on the edge of an amputated nerve, whereas the milled substances of kidney and of spleen did not show that characteristic during the test. Besides these statements concerning the retro-bulbary implantation of the white substance of a preserved brain, we would like to mention our therapeutic results obtained in the cases of atrophy of the papilla of the optical nerve of different etiology.

During the years 1947-1949, 25 cases were treated by the retro-bulbary implantation of the preserved brain from a corpse. Among these cases there were 9 cases of luetic etiology, two cases – twice – post - traumatical and hereditary, and 11 cases of an unknown genesis. In 15 cases treated in this way, an improvement in vision was observed and in 3 cases the visual field was visibly broadened. ·Our results obtained in the case of atrophy of the optical nerve of different etiology thus clearly proved the efficacy of therapy using the retro-bulbary implantation of the preserved brain from a corpse. We continue our examinations in this direction by treating the cases of the retinitis pigmentosa. The theoretical suppositions about the efficacy of the action exist probably principally in an hyperaemizing on the tissue-therapy and in a special and stimulative factor which manifests itself seemingly best in these two ways of tissue-therapy. Through the implantation of the preserved' placenta in the chamber ant. of the eye a resorption of the implanted tissue takes place in the inner part of the eye together with a suspension of active substances (the hormones, acetylholine, histamine) in the aqueous humour of the eye, coupled by an ulterior penetration and action in the region of the retinal blood vessels. In the cases of the pigmentary retinitis where the placenta had been implanted in the anterior chamber of the eye, not only an active hyperaemia of the papillary blood vessels was observed but even a more or less accentuatec formation of new papillary vessels on the papilla of the optical nerve and in the region round the papilla. We thus brought a clinical Confirmation regarding the biochemical activity after an implantation of the preserved placenta in the chamber ant. of the eye, in which the factor producing the hyperaemia and the new capillaries belongs to the histamine (Cavka, Postle) and where the acetylcholine, making itself free out of the implanted tissue of the placenta and the brain, exercised its activity by dilating the papillas of the retinal arteries and by hyperaemizing the tissue of the pathologically changed retina.

Filatow's tissue-therapy has lost some ground with ophthalmologists lately concerning therapeutical interventions in different affections of the eye. We think it necessary to underline that in the ways of application of the tissue-therapy, as set out above, there even seem to be certain therapeutical advantages over other kinds of treatment in the cases of pigmentary retinitis as observed by us. The kind of implantation mentioned by us represents, at least for the moment being, about best therapeutic means in cases of pigmentary retinitis, as there surely originate some reparatory formations in the neuro-epithels, in the ganglionary cells and in the nervous fibres of a diseased retina, of course only in the cases where the process of atrophy is still in the initial stage.