[Electrophysiologic findings in neuronal ceroid-lipofuscinosis (Batten-Spielmayer-Vogt)].
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Biomedical subjects
Publications and source records attributed to P Heilig.
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Scar formation at the edge of the scleral flap may cause insufficient pressure regulation in trabeculectomies. A scleral wick (modified after Kottow) could improve the success rate of fistulizing operations. In 24 eyes with glaucoma a modified trabeculectomy with scleral wick was performed. No re-closure of the scleral flap could be observed over a period up to 15 months (mean = 5.9).
The night-blind subject examined in 1952 by Schubert and Bornschein was reexamined electrophysiologically. All findings were unchanged. Normal a, d and g-waves in the ERG indicated undisturbed receptor function. Fast and slow oscillations of the EOG were normal. The subjective darkness-adaptation curve revealed minimal scotopic function after the 14th min of adaptation. The significance of clinical and electrophysiological findings for the classification of stationary congenital night blindness is discussed. The hereditary factor appears to be the most preferable criterion for the classification of stationary congenital night blindness.
A patient with well controlled chronic open-angle glaucoma developed after dilatation of both pupils persistent increase in intraocular pressure (IOP) due to extensive pigmentary dispersion into the aqueous humour. Trabeculectomy specimens obtained from both eyes after 3 and 7 weeks were studied by light and electron microscopy. It seems evident that the initial phase of raised IOP was caused by a clogging mechanism to the outflow channels by melanin and phagocytic cells. The permanent increase in IOP is attributed to the damage induced in the fibrous components of the trabecular sheets as a result of a complete breakdown of their endothelial covering.
A case of unilateral pigmentary degeneration of the retina was followed up over a period of 36 years. Clinical and electrophysiological findings of the affected eye resemble those of retinitis pigmentosa. The fellow eye is normal. The family history is negative. Therefore, the diagnosis of unilateral retinitis pigmentosa is not beyond dispute. Regardless of the long observation period the existence of unilateral pigmentosa could not be proven.
The wide range of clinical manifestations in x-linked retinoschisis can cause misinterpretations. Careful electroophthalmologic evaluation is a valuable acid, especially in patients without peripheral retinoschisis. The b-wave amplitudes of the electroretinogram are reduced and the oscillatory potentials are non-recordable. In the electro-oculogram the amplitudes of the slow oscillations are impaired.
In the ERG the b-wave and the oscillatory potentials are reduced or nonrecordable in ischemic retinopathy. The photopic b-wave appeared to be more sensitive than the scotopic b-wave. In the EOG the slow oscillation is reduced. These clinical observations are in accordance with the results of experimental studies in rhesus monkeys.
Hypovitaminosis A caused by a malabsorption syndrome had led to nearly selective disturbance of rod function in a 30 years old female. No rod dark-adaptation could be recorded. The b-wave in the ERG was lacking and the EOG was flat. The cone function appeared to be unimpaired. This could be documented by normal cone-ERG, colour vision, visual acuity and central visual fields. Following treatment with vitamin A the subjective dark-adaptation, the b-wave in ERG and the EOG recovered. The results show that cones contribute barely to the oscillations of EOG.
We report a family with X-linked juvenile retinoschisis. In addition to the three males with severe visual impairment, six other males in this family were found to have hitherto undiagnosed disease. The findings in these mildly affected males are described in detail. The wide range of clinical manifestations found among the affected relatives initially hampered recognition of the correct diagnosis. Once the correct diagnosis was made, proper genetic counselling could be given. The data are compatible with loose linkage between the loci for juvenile retinoschisis and the red cell antigen marker Xga.
In the clinical standard EOG procedure the light rise potential is influenced by the preceding dark troughs oscillation. This is apparent in the different configuration of the light rise potential when following a dark trough instead of a steady state. Uninfluenced responses can be obtained only under steady-state conditions. Recording of the light peak potential in this manner may be used on a trial basis for clinical routine examination. Experimental and more detailed clinical studies require separate recording of light peak and dark trough potential, each preceded by a steady state. The evaluation of these responses, expressing them in percent of the steady state, should reveal more information than can be expected from the standard light peak to dark trough ratio.
The integral dark adaptation curves of 10 complete acromats, 4 incomplete achromats and 11 normal subjects were compared using regression analysis. Neither in achromats nor in normal subjects a kink could be proven by this method. The final threshold of the mean dark adaptation curve of the complete achromats is slightly elevated. This may be explained by the fact that the group comprised 6 children.
2 patients, who were treated with clioquinol after radical resection of carcinoma of the rectum and colostomy, developed symmetrical sensorimotor polyneuropathy, mild posterior tract ataxia, bilateral pyramidal tract lesions and optic neuropathy, a clinical picture compatible with subacute myelo-optic-neuropathy (S.M.O.N.). One patient had neurological symptoms after having received 750 g of clioquinol, 3 years after treatment started, and impairment of vision was noted after having received 1200 g. The other patient had neurological symptoms 6 weeks after clioquinol was first given, having received 65 g, the average daily dose being 1.5 g, and vision was impaired after 765 g had been administered. On examination 12 and 14 months after clioquinol had been discontinued, the first patient's vision was slightly improved, but he was otherwise unchanged, while the vision of the other patient was unchanged, but she had otherwise deteriorated slightly neurologically. Electrophysiological examinations confirmed the clinical observations. A multifactor etiology of the syndrome: neurotoxicity of clioquinol, paraneoplastic neuropathy and malabsorption, is discussed.
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