[Chronic open angle glaucoma: correlation of pattern electroretinography and visual field indices]. / Chronisches Offenwinkelglaukom: Korrelation von Musterelektroretinogramm und Gesichtsfeldindizes.

The pattern electroretinogram has already proven to be useful in detecting early stages of chronic open-angle glaucoma. We were interested in the degree of correlation between pattern ERG amplitudes and definite visual field defects. Fifteen glaucoma patients with a wide range of visual field defects were examined with pattern electroretinogram (stimulus with reversal rate of 8/s, checksizes of 0.9 degree and 6.9 degrees, covering a visual field of up to 9 degrees eccentricity). The patients' visual fields obtained with the Octopus 1-2-3 perimeter were analyzed with the perimetric analysis system PERIDATA using the indices of conformity for localized defects and the regional indices created from the mean deviation in certain parts of the 30 degrees field. In our results we were only able to find a significant correlation within the 5% level between the pattern ERG amplitudes and the sector index (large checksize, correlation coefficient r = -0.58, p = 0.03) and with the mean deviation in the region between 10 degrees and 20 degrees (small checksize, r = -0.538, p = 0.044). In summary, a marginal correlation between electrophysiological data and perimetric parameters was demonstrated. We try to explain the remarkable correlation between the amplitudes (small pattern) that were recorded from the central 9 degrees with the mean defects from the visual field peripheral of 10 degrees with the frequent combination of diffuse and localized field defects in glaucoma. Examination with the pattern ERG alone does not seem to be appropriate for grading the focal glaucomatous damage.

[Pattern electroretinography in routine clinical diagnosis of open angle glaucoma]. / Musterelektroretinogramm in der klinischen Routinediagnostik des chronischen Offenwinkelglaukoms.

According to current opinion, the pattern electroretinogram (ERG) is generated in the retinal ganglion cells. Therefore, the amplitude is expected to be reduced in diseases of the optic nerve. This leads to the conclusion that the pattern ERG might be applied in detecting ganglion cell loss in the routine clinical diagnosis of chronic open-angle glaucoma. Pattern ERGs were recorded in 15 patients with defined chronic open-angle glaucoma and 21 control individuals using a DTL fiber electrode at two different check sizes. A Fourier analysis of the ERG results reduces the subjectivity when analysing the amplitudes on screen and implies the possibility of multicentric comparability. The reliability of coordinating a value of a future patient to the correct group was estimated to 82% for the Fourier data by the bivariate discriminant analysis, based on the amplitudes of both check sizes. In this way, the relatively high interindividual variability will be partly overcome. The ability of the ERG amplitudes to separate glaucoma patients from healthy persons was determined by the AUC value, using a combination of sensitivity and specificity extracted from the ROC curves. The AUC value has its maximum at 1.0. We found an AUC value of 0.8, which confirmed the information given by the pattern ERG amplitudes. Healthy individuals and glaucoma patients cannot be separated completely by the procedure but, combined with additional clinical parameters, further validation can be achieved.

A cysteine 3340 substitution in the dystroglycan-binding domain of dystrophin associated with Duchenne muscular dystrophy, mental retardation and absence of the ERG b-wave.

We report the first C-terminal missense mutation in a Duchenne muscular dystrophy patient. A G10227A transition of the dystrophin gene was found which resulted in the substitution of a highly conserved cysteine at position 3340 within the second half of the dystroglycan-binding domain. Residual amounts of 427 kDa dystrophin were detected in western blot analysis of the patient's muscle tissue, and immunohistological examination revealed weak traces of dystrophin on all fibers. Sarcolemmal staining intensity of 43 kDa beta-dystroglycan was also reduced. Mental retardation in our patient and absence of the b-wave in his electroretinogram indicate that central nervous functions of dystrophin isoforms also depend on the presence of cysteine 3340.

Early receptor potential recordings for clinical routine.

An apparatus and an electrode for early receptor potential recordings in clinical routine are introduced. One-hundred and eighty normal eyes were compared with cases of diffuse and localized retinal diseases. In retinitis pigmentosa patients a decrease in R1 and R2 amplitudes and in some cases a much faster time course was found. Eyes with circumscribed retinal affectations produced a wide variety of amplitudes, overlapping with the range of normals. In cases of monochromatism, the ERP recording established the diagnosis because of an absent R1 wave.

[Trial and evaluation of a new test to examine color vision (author's transl)]. / Erprobung und Beurteilung eines neuen Tests zur Prüfung des Farbensinns.

With the new Rodenstock color test disk it is possible to distinguish with 99% accuracy between deuteranopia and protanopia. In addition, the diagnosis is quantitatively correct (anomaly or anopia) in 92% of deuteranopia and 98% of protanopia cases. A special scheme for evaluation is presented. Special emphasis was placed on describing exactly the function of this new method of examining inherited color vision deficiencies. Only persons who were already known to have defective color vision were tested. Therefore, no conclusions can be drawn regarding the efficiency of detection of color vision deficiencies.

[Diaphyseal dysplasia (Camurati-Engelmann syndrome) with progressive loss of vision: 30-year observations and the effect of prednisolone treatment (author's transl)]. / Diaphysäre Dysplasie (Camurati-Engelmann-Syndrom) mit fortschreitendem Visusverlust.

Radiological changes in the skeleton had been present for 30 years in a now 42-year-old man with diaphyseal dysplasia (Camurati-Engelmann syndrome). Because of threatened blindness by bony narrowing of the optic canal prednisolone was administered over several years. Biochemical, calcium-kinetic and ophthalmological studies demonstrated a favourable effect of this treatment.

Videopupillographic and VER investigations in patients with congenital and acquired lesions of the optic radiation.

In 9 patients with congenital and acquired lesions of the optic radiation, videopupillographic investigations have been employed to determine the pupillographic threshold in the homonymous field defect. The study includes 3 patients suffering from congenital porencephalic cysts. The pupillary response was graded as akinetic, hypokinetic or eukinetic. These classifications yield some diagnostic clues as to the nature of the lesion. An attempt was made using the VER response in these patients to correlate the findings.

[Pupil and light sense perimetry with light and dark adaptation (author's transl)]. / Pupillen- und Lichtsinnperimetrie bei Hell- und Dunkeladaptation.

In comparison to light sense perimetry the use of pupillomotoric thresholds determination in the central region of the retina at various visual field illumination (10 asb, 0,1 asb, 0,001 asb, 45 degrees Meridian, 27' testpoint) has yielded the following results: 1. The maximum of the pupillomotoric sensitivity profile lies independant of the state of adaptation in the fovea. 2. Irrespective of adaptation state the course of the pupillographic profile curves are congruent. 3. Sensoric determinations show a slow flattening of the curves to the periphery whereas comparatively pupillographic determination yields a steep course (difference in areal summation). 4. In total the pupillomotoric sensitivity increases only about 10 db during the change of adaptation from light to dark. --As the phasic pupillo-light-reflex is elicited by rods and cones the differences between the sensoric and pupillomotoric threshold determinations must arise from intraretinal neuronal processes and not from the receptor reactions.

[Videoprocessing pupillographic perimetry in hemianopsia (author's transl)]. / Fernsehbildanalytische pupillographische perimetrie bei Hemianopsie.

In cases of homonymous hemianopsia, with the aid of pupillographic perimetry it is possible to differentiate between infra- or suprageniculate lesions. Principally the validity of Wernicke's theory remains unchanged. However in processes in the central visual pathways a hemihypokinesia of varying degree may be found. In the blind visual fields so far in our cases a congruence between pupillographic and perimetric thresholds has not been confirmed. The phenomenon of hemihypokinesia of the pupil is discussed.

[Leber's optic atrophy - an interdisciplinary study (author's transl)]. / Die Lebersche Optikusatrophie. (Eine interdisziplinäre Studie).

Clinical-neurological, electrocephalographic, ophthalmological and genetic observations of a family with related persons with Leber's optic atrophy is described. 6 male subjects of the altogether ca. 100 members of the family tree stretching over 4 generations were manifestly affected relatives - that is possible carriers, an unusually large number of EEG's were abnormal, and, less often, colour vision disturbances were seen. The results suggest that Leber's optic atrophy is a hereditary neuro-ophthalmological systemic condition, whose most striking symptom is the optic atrophy. The genetic factors of the condition are also discussed.

[Pigmentary degeneration of the retina: neurological and biochemical findings (author's transl)]. / Klinisch-neurologische und biochemische Befunde bei der Retinopathia pigmentosa

A report on the neurological results of an investigation carried out on 38 patients with pigmentary degeneration of the retina. The ophthalmological investigation did not indicate a systemic disease. The neurological findings, however, revealed a systemic disorder in many cases.-The constitutions of 20 patients (52.5%) were marked by pathological stigmata. The EEG was abnormal in more than 50% of the cases. The EMG showed a prolonged nerve conduction time for 2 of a total of 4 deaf patients. The EMG also revealed a patient with both pigmentary degeneration of the retina and a mold form of myasthenia gravis. The biochemical results indicated hyperlipoproteinemia in 6 cases (15.8%), diabetes mellitus in 2 cases and a pathological increase of uric acid in the serum in 8 cases. These results suggest that pigmentary degeneration of the retina is not a homogenous disease. It must be seen as a "phenomenologically identical, polygenetic type of reaction" (Janzen). A comprehensive analysis of the individual case can therefore lead to implications which are of direct therapeutic significance.

[Clinical-neurological and electromyographical studies of inpatients isolated with selective pigmentary retinopathy]. / Klinisch-neurologische und elektromyographische Untersuchungen bei Kranken mit anscheinend isolierter Retinopathia pigmentosa

1. 37 patients with pigmentary retinopathy, seeming otherwise healthy, were thoroughly examined for fine symptoms in other parts of the body, in particular for neuropathies and for blood chemistry peculiarities. 2. In 19 cases some constitutional pathology was discovered, in 4 cases hearing was affected by inner ear changes. 3. Clinically patients behaviour was changed and with electroencephalgraphy an encephalopathy was found in 7 cases. 4. Electroencephalograms were in more than 50% of cases slightly abnormal. 5. A myastenic reaction, confirmed by electromyography, occurred in one case (but not in its sibling who had also a pigmentary retinopathy.) 6. In 14 cases electromyogram was showing a neurogenic damage. Motor nerve conduction speed was lowered in 2 cases, in 5 cases it was at the lower limit of normal. In 6 cases very long distal latence times were noted. In 2 cases action potential was shortened but this could not be considered as a myopathy for certain. 7. In 6 cases a hyperlipoproteinaemia occurred. In 2 cases a mild diabetes mellitus, in 7 cases uric acid level in serum was raised. The number of cases was too small to give a statistical importance to those findings. 8. Cerebrospinal fluid was found normal in all cases. 9. This study should lead to further investigations. In spite of the small number of cases one can presume that pigmentary retinopathy is not an independent defect but is a phenomenon of a polygenetic entity.