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lüll Familial cerebro-macular degeneration (the Stengel-Batten-Mayou-Spielmeyer-Vogt-Stock disease) Evaluation of the photoreceptors Hansen EActa Ophthalmol (Copenh) 1979[Jun]; 57 (3): 382-96In a material comprising seven patients with familial cerebro-macular degeneration a grave visual disability had developed within a few years after the onset of the disease, this being at 3 1/2 to 7 years of age. The night vision was only moderately reduced. A severe red-green colour vision defect was demonstrated in three patients. This is in accord with the loss of red and green cone responses found in one patient by chromatic adaptation studies. On the other hand, a remarkably good response of the blue cone system was registered. Normal pulse amplitudes were found by dynamic tonometry in four patients indicating good choroidal circulation. This supports the theory that the degeneration of the neuroepithelium is of primary type. The selectivity in loss of response functions being demonstrated here, might, however, also be related to parallel degenerations taking place in ganglion cells.|Child[MESH]|Color Perception/physiology[MESH]|Dark Adaptation[MESH]|Electroretinography[MESH]|Female[MESH]|Fluorescein Angiography[MESH]|Humans[MESH]|Lipidoses/diagnosis/*physiopathology[MESH]|Male[MESH]|Photoreceptor Cells/*physiopathology[MESH]|Tonometry, Ocular[MESH] |