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Biomedical subjects

W Jaeger

Publications and source records attributed to W Jaeger.

At least 19 recordsLinked to original sources

Horner's law. The first step in the history of the understanding of X-linked disorders.

Earlier reports on colour blindness are descriptions which almost always mention the familial occurrence. Horner's publications (1876), however, gave the first scientific analysis of the hereditary transmission of Daltonism. Since this genealogic study was published only in a local bulletin of the City of Zurich it seemed necessary to give a translation of the most important part of the article. 'Horner's law' says that colour-blind fathers have colour-normal daughters; and these colour-normal daughters are the mothers of colour-blind sons. In his first pedigree Horner demonstrates that colour-blindness is transmitted from the grandfather to the grandson. A second pedigree, however, shows the possibility that the transmission is also possible via female carriers through more than one generation. The similarity with the inheritance of haemophilia, published by Lossen (Heidelberg), was mentioned by Horner. In the further progress of genetic research the chromosomes were visualized, at first in tumour-cells 1881, in cells of human tissue. The final point in this development was the description of sex chromosomes, which made the interpretation of Horner's law possible by Wilson (1911), i.e., the localization of the pathologic gene of Daltonism on the X-chromosome.

Color Vision Defects

Electrophysiology and colour perimetry in dominant infantile optic atrophy.

A typical finding in dominant infantile optic atrophy (DIOA) is the variation of the phenotypic expression of the DIOA gene even within one family. It is of special interest for genetic consultation to evaluate an examination method for detecting subclinically involved patients. Seven patients of two families were examined. Three of them had the typical symptoms of DIOA: reduced visual acuity, tritan defect, temporal pallor of both optic discs, and a relative central scotoma for white test spots. In visual evoked cortical potentials (VECP) the amplitudes were reduced, and in one patient the latencies were slightly delayed and two patients considerably so. The amplitude of the negative component of the PERG was markedly reduced, while the positive component was normal. In the remaining four family members normal retinal and cortical responses were recorded under standard conditions and visual fields and colour vision (FM 100 hue) were also normal. However, static perimetry with blue test spots showed in two family members enlarged central scotomas, thus proving that they had subclinical DIOA.

Adolescent

The blind Belisar as beggar.

The blind Belisar as an example of the sudden fall from honour and glory to poverty and distress inspired not only Rembrandt but also several artists from the 17th to the 19th century. The contemporary historians report that Belisar was dismissed by Justinian because of envy and distrust and that he died in poverty. Details about his blinding can be found only in an epic of the 12th century. A report is given about the different gruesome techniques of blinding that existed during the centuries of Byzantine empire.

Blindness

Effects of dietary oleic, linoleic and alpha-linolenic acids on blood pressure, serum lipids, lipoproteins and the formation of eicosanoid precursors in patients with mild essential hypertension.

Forty-four male in-patients with mild essential hypertension were randomly allocated to three groups and put on diets supplemented with 60 ml/day of olive (n = 15), sunflowerseed (n = 15) or linseed oils (n = 14), respectively, for two weeks within a blind study. In the group receiving sunflowerseed oil an increase of linoleic acid in serum lipids could be observed, whereas arachidonic and eicosapentaenoic acids appeared unchanged in serum triglycerides and even significantly lower in cholesterol esters. The subjects ingesting the linseed oil-rich diet showed an increase of alpha-linolenic acid in serum lipids, whereas arachidonic and eicosapentaenoic acids remained unchanged in serum triglycerides. In cholesterol esters, however, arachidonic acid was significantly decreased and eicosapentaenoic acid appeared increased only to a low level of significance. In the group put on the olive oil-rich regimen only a significant fall of linoleic acid was obvious in serum triglycerides. The results might indicate a defective desaturation and elongation of linoleic and alpha-linolenic acids and, consequently, a slow formation of arachidonic and eicosapentaenoic acids in patients with mild essential hypertension, which should be considered in dietary studies. After the sunflowerseed oil-rich diet a significant decrease of total cholesterol, low density lipoprotein (LDL) cholesterol and the LDL/high density lipoprotein (HDL) cholesterol ratio was found. Systolic blood pressure during a psychophysiological stress test and urinary sodium excretion appeared significantly lower after the linoleic acid-rich diet. After the linseed oil-rich diet, in addition to total cholesterol, LDL cholesterol and the LDL/HDL cholesterol ratio, serum triglycerides and lecithin cholesterol acyl transferase (LCAT) activity were significantly depressed.(ABSTRACT TRUNCATED AT 250 WORDS)

Adolescent

[Cerebral achromatopsia (symptoms, course, differential diagnosis and examination strategy). II].

To the patient, the sudden onset of cerebral achromatopsia is like switching to black and white on a color TV. As a rule, the defect arises due to bilateral ischemic infarction in the inferior occipitotemporal region. Bilateral upper homonymous quadrantanopsias usually leave the macula more or less unimpaired, so that visual acuity is largely preserved. Prosopagnosia and loss of topographic memory are often associated with central achromatopsia. Investigations of color vision must include color-naming procedures and large-field tests in addition to the conventional methods. Color-naming tasks are indispensable in differentiating cerebral achromatopsia from the aphasic and disconnective types of color anomia. The authors' recommended strategy for investigating color vision relies on records of a case of cerebral achromatopsia obtained six months and two years, respectively, after the onset of symptoms. In addition to the above-mentioned procedures, spectral increment thresholds on white and colored backgrounds were determined. For the first time in cerebral achromatopsia, examinations with large-field spectral matches were performed using the projection anomaloscope. Large-field tests are indispensable for monitoring recovery in cases of central achromatopsia. In the author's patient, recovery of blue-green discrimination was far more complete than that of red-yellow-green discrimination, and for both conditions large-field color vision was far superior to small-field.

Anomia

[Final clarification of Goethe's findings in the examination of color blind patients].

During his researches on colour-vision Goethe has examined two colour blind students. The reports and the colour tests made by Goethe himself are mostly preserved. Due to the colour confusions in the whole purple zone Goethe decided that the subjects were blue blind. During the 19th century-- however--the supposition arose that it must have been a red-green-blindness. It was Trendelenburg, who supposed a deuteranopia. On the other hand reconstructions of Goethe's examinations had the result that it was in all probability a protanopia. A final solution of this discussion is now possible after a great-grandson of Goethe's subject Gildemeister was found out and examined at Nagel's anomaloscope. He is a typical protanope. According to the pedigree demonstrating the typical x-linked hereditary transmission, we can be sure that Goethe's subjects were protanopes.

Color Perception Tests

[Treatment of a severe course of keratoconjunctivitis sicca with eledoisin].

Cases of keratoconjunctivitis sicca with keratitis filiformis (with and without Sjögren's syndrome) with severe courses cannot be treated adequately with artificial tears. Only since the discovery of Eledoisin, which was introduced for ophthalmological therapy by Bietti, has a drug been available which directly stimulates tear secretion. Eledoisin was discovered in the salivary glands of certain Mediterranean species of octopus and can meanwhile be produced synthetically. A randomized study conducted at the University clinics in Heidelberg, Cologne, and Ulm showed that Eledoisin is significantly superior if the statistics are based on cases with severe courses. Cases with less severe courses also respond well to therapy with artificial tears.

Adult

[Cerebral achromatopsia (symptoms, course, differential diagnosis and strategy of the study). I].

To the patient, the sudden onset of cerebral achromatopsia is like switching to black and white on a color TV. As a rule, the defect arises due to bilateral ischemic infarction in the inferior occipitotemporal region. Bilateral upper homonymous quadrantanopsias usually leave the macula more or less unimpaired, so that visual acuity is largely preserved. Prosopagnosia and loss of topographic memory are often associated with central achromatopsia. Investigations of color vision must include color-naming procedures and largefield tests in addition to the conventional methods. Color-naming tasks are indispensable in differentiating cerebral achromatopsia from the aphasic and disconnective types of color anomia. The authors' recommended strategy for investigating color vision relies on records of a case of cerebral achromatopsia obtained six months and two years, respectively, after the onset of symptoms. In addition to the above-mentioned procedures, spectral increment thresholds on white and colored backgrounds were determined. For the first time in cerebral achromatopsia, examinations with large-field spectral matches were performed using the projection anomaloscope. Large-field tests are indispensable for monitoring recovery in cases of central achromatopsia. In the author's patient, recovery of blue-green discrimination was far more complete than that of red-yellow-green discrimination, and for both conditions large-field color vision was far superior to small-field.

Aged

Diagnosis of dominant infantile optic atrophy in early childhood.

An acquired tritan defect is the earliest and the most pathognomonic sign of dominant infantile optic atrophy (DIOA) and the Tritan Album of Lanthony (1985) is helpful for the diagnosis of this condition. In preschool children, diagnosis of DIOA is possible by modifications of this test, using one plate under standard illumination which can be rotated into four positions, and by measuring the maximum distance of recognition of the plate.

Adult

[Diagnostic value of pseudoprotanomaly for the differential diagnosis between retinal and optic nerve diseases].

It has been known since the time of Koellner that some diseases of the retina produce a shift of the Rayleigh equation toward red on the anomaloscope. In 1951, at the suggestion of Engelking, this "pseudoprotanomaly" was analyzed using Helmholtz's color mixer at Heidelberg University Eye Clinic. Pseudoprotanomaly is pathognomonic for diseases accompanied by macular edema (central serous chorioretinitis) as well as for the early stage of Stargardt's macular degeneration. The various hypotheses regarding its origin are discussed. In cases of visual disturbance with just-recognizable scotoma, ophthalmoscopy does not permit a definite differential diagnosis between retrobulbar neuritis and a macular lesion. In these cases "pseudoprotanomaly" is a definite sign that there is a macular lesion and not a retrobulbar neuritis.

Chorioretinitis

Normal and defective colour vision in large field.

Colour vision is spatially organized. A light stimulus has to strike spectrally different photoreceptors, covering the center and surround of the receptive field of a colour opponent retinal ganglion cell. Otherwise, no colour opponent processing of signals will occur. Vice versa, spatial summation provided by a large field may compensate for weak opponency. This happens not only in congenital, but also in acquired colour vision defects, when opponency is weakened secondary to a reduced receptoral input. Large field colour vision in Daltonians. Large field red-green opponency is a common phenomenon in patients fitting into the criteria of protanopia and deuteranopia. The difference between small and large field colour vision can be demonstrated by the "projection anomaloscope". At a 30 degrees test field, many anopes behave like the respective anomalous observers. The majority of anopes appear to have some "forbidden cones" at their retinal disposal. So, anomaly and anopia share a common photochemical basis, i.e., the anomalous pigment. However, in anopes, the number of those anomalous cones is extremely small. Therefore, anopic observers usually need a very large amount of spatial summation to arrive at a well defined match of the projection anomaloscope. In protanopes the large field match in our experiments was always a protanomalous one, with the exception of one large field protanope. In deuteranopes, however, there was no such constant behaviour in large field matching. We found deuteranomalous matches as well as matches in the vicinity of the normal mid-match point. Contrary to this behaviour of anopes anomalous observers do not significantly alter their matching pattern irrespectively of whether small (1 degree) or large (30 degrees) test fields are used. So-called peripheral colour blindness of normal observer. Results of classical colour perimetry reveal a dichromatism of the intermediate and a monochromatism of the extreme retinal periphery of the normal observer. These results appear to contradict the common everyday experience of colour constancy throughout the visual field. But a threshold correlation of colour constancy at different retinal exentricities can be demonstrated by recording spectral increment thresholds with test field diameters increasing towards the retinal periphery. So, the colour blindness of the retinal periphery is merely an area phenomenon. It can be overcome by large field observation, rendering spatial summation. Congenital achromatopsia. Remnants of colour vision can be demonstrated in many achromats.(ABSTRACT TRUNCATED AT 400 WORDS)

Color Perception

Slow desaturation and elongation of linoleic and alpha-linolenic acids as a rationale of eicosapentaenoic acid-rich diet to lower blood pressure and serum lipids in normal, hypertensive and hyperlipemic subjects.

In normal, hypertensive and hyperlipemic subjects, diets supplemented with linoleic acid (LA) or alpha-linolenic acid (LNA) resulted in an increase of the corresponding fatty acids in serum lipids. However, their C20-derivatives, the prostaglandin precursors arachidonic acid (AA) and eicosapentaenoic acid (EPA), respectively, were not or only slightly augmented. On the other hand, an EPA-rich diet produced a marked increase of this fatty acid, especially in cholesterol esters. After this diet the decreases of blood pressure and serum lipids were more pronounced when compared with LA- and LNA-rich diets containing a 20-fold higher dose of the polyunsaturated fatty acids. The slow formation of AA and EPA from LA and LNA seems to be a characteristic finding in humans, being different from preferred laboratory animals, for instance, rats. This observation was independent of the presence of risk factors, like arterial hypertension or hyperlipoproteinemia (HLP).

Adult

[Impression cytology as a noninvasive method of conjunctival biopsy and its results].

Impression cytology is a non-invasive, repeatable, and uncomplicated method of examining the conjunctiva. Cellulose-acetate filters are used to remove the superficial layers of the conjunctiva. This technique causes no subjective discomfort to the patient. The method combines the advantages of a biopsy with those of a "Häutchenpräparat." The authors used 3 different stains for the conjunctival imprints: PAS-hematoxylin, Alcian blue and a combination of Alcian blue and PAS. From the different staining characteristics of the goblet cells it was possible to draw conclusions about different functional cell conditions. The metachromatic properties of a few cells among the large number of epithelial cells led to speculation on the existence of different cell types and their possible correlation with the various cell types described by Rohen for the conjunctiva of monkeys. In patients with keratoconjunctivitis sicca or Sjögren's syndrome pathologic nuclear changes occur that lead to chromatin taking on a snake-like appearance, the so-called "snakes." To the authors' surprise, similar chromatin changes were found in a great number of cells of contact lens wearers, with frequency depending on the type of contact lens. Impression cytology is a special method of non-invasive biopsy providing new possibilities for diagnosis, differential diagnosis, and therapeutic control of conjunctival disorders.

Biopsy

[Scanning electron microscopy image of the cells of the conjunctival epithelium in specimens from impression cytology].

Impression cytology specimens of the conjunctiva can be examined by scanning electron microscopy. If a cellulose-acetate filter is pressed onto the conjunctiva, the microvilli-bearing epithelium becomes so firmly attached to the fine meshwork of the filter that the most superficial conjunctival cell layers adhere to the filter. When the filter is removed intercellular connections are destroyed without any damage to the cell membranes being detectable in the SEM image. Since the surface of the corneal epithelium is spread out on the filter and is firmly attached to it the lateral bond between the cells is preserved. Shrinkage is minimal. The posterior surface of the epithelial cells, facing the observer, consists of smooth, porous cell membranes. The nuclei of many cells are clearly distinguishable. Since it can be directly compared with light-microscopic specimens, the SEM image can help provide answers to morphological and pathological questions, and may represent a useful diagnostic aid.

Adult

[Johannes Kepler's contributions to ophthalmologic optics].

Until the beginning of the 17th century it was held that an image is formed in the eye on the anterior surface of the crystalline lens. Ophthalmological optics as a scientific discipline only began with a discovery made by Johannes Kepler. Without performing new experiments, and solely by application of the laws of light refraction, he analyzed the path of light through the eye and demonstrated that an image is formed on the retina and that it is inverted. Acceptance of this discovery was impeded by contemporary prejudices which could imagine nothing but an upright image in the eye, even though this attitude could not explain certain phenomena. Kepler's discovery of the path of light in the eye made it possible to explain the following physical phenomena: central visual acuity, visual field, dark adaptation, and errors of refraction. Physiological diplopia and the mechanism of accommodation were discovered later. The law stating that the intensity of light decreases with the square of distance was also formulated by Johannes Kepler; this law, too, could only be demonstrated after the path of light through the eye had been discovered. In recent years the Keplerian telescope has assumed a practical significance in ophthalmological optics. As a reading aid for individuals with impaired vision it offers a significantly higher magnification than any other optical visual aid.

Germany

[Can the use of infrared photography give evidence of the prognosis of hereditary macular degeneration?].

The question as to whether infrared photography can help determine the prognosis of hereditary macular degeneration cannot be answered simply in the affirmative or negative. Changes in the retinal surface layers are not detected by infrared photography. Therefore, no statement can be made regarding the prognosis of these types of macular degeneration. As far as macular degenerations of the deeper layers of the fundus are concerned, it cannot be stated as a general rule that severe changes in the infrared photograph imply a worse prognosis. Rather, one has to differentiate on the basis of the form and limitations of the defects. Infrared photography furnishes prognostic information by facilitating differential diagnosis between the prognostically favorable central areolar choroidal atrophy and the unfavorable progressive diffuse atrophy of the choroid. Further pointers to the prognosis can be obtained by differentiation between Stargardt's macular degeneration and diseases with favorable prognoses, which appear similar at the fundus, namely central areolar choroidal atrophy and dominant macular degeneration, which has a relatively benign course. In Stargardt's macular degeneration infrared photography seems to provide the following prognostic information: whether the degeneration is limited to the macula; whether flavimaculatus spots appear, or whether diffuse chorioatrophic degeneration will occur.

Atrophy

[Intraocular pulse fluctuations in pressure in neovascularization glaucoma in comparison to other forms of glaucoma (results of direct manometric measurements)].

With tonometric and tonographic measurements it is possible to detect and record oscillations which are synchronous with the intraocular pulse. These oscillations decrease with increasing IOP. In contrast, with direct manometric measurement, the amplitude of the intraocular pulse increases with increasing intraocular pressure. Therefore, in order to determine the intraocular pulse amplitude in patients, direct manometric measurements were performed on blind or almost blind eyes. Intraocular pressure was experimentally elevated by injecting fluid through a cannula into the anterior chamber, using a special Guyon syringe. The course of the drop in pressure and the amplitudes of the intraocular pulse were recorded with the Neuhaus apparatus and a light-spot pen. The most striking result was that in neovascular glaucomas there are excessive pulse amplitudes. The question whether the poor prognosis of neovascular glaucoma is associated with these intraocular pulsations is discussed.

Anterior Chamber