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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

[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

[X-linked night-blindness: clinical and electrophysiological investigations including de-ERG in two families (author's transl)].

Patients from two families with X-linked recessive nyctalopia and myopia were investigated. The functional tests included clinical examinations (visual acuity, color sense, visual fields, dark adaptation) and electrophysiological examinations (ac coupled ERG, dc-coupled ERG, EOG). The dc-coupled ERG registrations were done without general anesthesia. In one case, a comparison with results obtained in 1967 was possible. There was no evidence of increase in functional impairment. On the basis of the electrophysiological results, the nature and localization of the defect causing nyctalopia are discussed. The postreceptoral retinal structures appear not to be involved exclusively.

Adult

[Applications of novel stereomicroscopic spectacles in ophthalmic surgery (author's transl)].

The previous magnifying spectacles and telescopic spectacles designed on the principle of the Galilean telescope have a magnification of only 2.5 x to 3 x for good image quality. New magnifying systems from Zeiss based on the Kepler telescope principle offer 3 x to 8 x magnification and thus cover the range between magnifying spectacles and operation microscopes and even come into the latter range. The following versions are available for ocular surgery: 1. Mounted on headband. 2. Fastened to the frame in front of the lenses. 3. Cemented into drilled holes in the lenses with additional horizontal connection of the magnifying systems. 4. Cemented into drilled holes in the lenses without horizontal connection. These versions offer different advantages and are selected according to the particular field of application and the refraction of the surgeon. With these compact and easily transportable stereomicroscopic systems the surgeon has complete freedom of movement being able to select the most convenient position at any stage of the examination or operation. Further applications of such stereomicroscopic spectacles beyond the field of ophthalmic surgery are mentioned.

Eye Diseases

Differential diagnosis of typical and atypical congenital achromatopsia. Analysis of a progressive foveal dystrophy and a nonprogressive oligo-cone trichromasy (general cone dysfunction without achromatopsia), both of which at first had been diagnosed as achromatopsia.

Report on two patients whose symptoms suggested the presence of congenital achromatopsia. In one case there was indeed total colour blindness, but a normal photopic ERG. Here, achromatopsia is the present stage in a process of slow functional decay of the central retina. Most probably the underlying disorder is progressive foveal dystrophy, a central form of cone dystrophy. In the other case there was a nonrecordable photopic ERG, but trichromatic colour vision. This appears to be another patient with oligo-cone trichromasy (general cone dysfunction without achromatopsia), as described by Van Lith.

Adult

[Herpetiform bilateral epithelial corneal dystrophy caused by Tyrosinemia (Richner-Hanhart-Syndrome) (author's transl)].

Nutritional Tyrosinemia in animal experiments (Schweizer, Burns a. o.) caused an epithelial corneal dystrophy. The corresponding clinical picture is the Richner-Hanhart-Syndrome with herpetiform epithelial corneal dystrophy, palmo-plantar-keratosis and -- in some case -- a later developing oligophrenia. Goldsmith and coworkers suceeded to find out that all these symptoms are combined with tyrosinemia presumably caused ty one congenital enzyme defect. -- Personal clinical observations of such patients demonstrate that as well the corneal as the dermatological symptoms could be cured by diet, if the diagnosis is made in childhood. Corneal symptoms are still absent with a tyrosinemia as high as 10 mg%. Dietetic formula was found out to maintain this level, which is low enough to avoid the symptoms of Richner-Hanhart-Syndrome and certainly high enough to avoid symptoms of nutritional deficiency. One might expect that oligophrenia will not develop if this diet is used consequently. -- Since the first corneal symptoms develop already during the first years of life the ophthalmologist ought to know this etiology. The levels of tyrosinemia are so exorbitant (30--50 mg%) that the laboratory diagnosis is possible without any difficulty. If the diagnosis is only made in adult patients dietetic therapy is of limited value.

Age Factors

[Arcus senilis].

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Adult