The Electroretinogram in Infantile, Late Infantile, and Juvenile Amaurotic Family Idiocy

Copenhaver, Richard M.; Goodman, George

doi:10.1001/archopht.1960.00950020561014

Cited by 36 publications

(11 citation statements)

References 16 publications

(4 reference statements)

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“…This is in contrast with the early loss of vision accompanied by a decrease in the size of the ERG, found in the juvenile form of amaurotic familial idiocy (Copenhaver and Goodman, 1960). Our 16 children appeared clinically to have reasonably good vision until such a time when their general condition made such assessment impossible.…”

Section: Discussioncontrasting

confidence: 76%

“…An absent or markedly depressed ERG has been reported in 'late infantile amaurotic familial idiocy' by Copenhaver and Goodman (1960) in marked contrast with the preservation of the ERG in Tay-Sachs disease in which only the ganglion cells rather than the rods and cones are affected. These authors considered the ERG findings to be of considerable importance in the differential diagnosis of progressive neurological disorders.…”

Section: Discussionmentioning

confidence: 96%

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Electroretinogram and visual evoked response in a form of `neuronal lipidosis' with diagnostic EEG features

Harden

Pampiglione

Picton-Robinson

1973

Journal of Neurology, Neurosurgery & Psychiatry

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SUMMARY Combined recordings of the electroretinogram (ERG) and the cortical visual evoked response (VER) have been made together with the electroencephalogram (EEG) in 16 children suffering from a 'late infantile' form of 'neuronal lipidosis'. The ERG was not usually recordable, in keeping with a gross loss of function of the retinal receptor elements. However, in all the 16 children, at whatever stage of the disease, a grossly enlarged VER was seen (some 12 to 20 times higher in amplitude than in a control group) and visible as a discharge on the primary EEG tracing. The first components of the VER were, however, of fairly similar wave form and latency to those seen in the control children. This unusual combination of ERG and VER findings together with the EEG features have not been found in other groups of diseases.

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Section: Discussioncontrasting

confidence: 76%

Section: Discussionmentioning

confidence: 96%

Electroretinogram and visual evoked response in a form of `neuronal lipidosis' with diagnostic EEG features

Harden

Pampiglione

Picton-Robinson

1973

Journal of Neurology, Neurosurgery & Psychiatry

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“…However, in a control examination 1-11JZ years later no light perception was observed. This is in contrast to gangliosidosis, in which pupillary light reflex remains normal (Copenhaver et al 1960, Menkes et al 1971. Deterioration of the visual function was rapidly progressive.…”

Section: Discussionmentioning

confidence: 74%

Ophthalmological Findings in Infantile Type of So‐called Neuronal Ceroid Lipofuscinosis

Raitta

Santavuori

1973

Acta Ophthalmologica

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The ophthalmological findings in 16 children with infantile type of neuronal ceroid lipofuscinosis are presented. All patients showed signs of a progressive encephalopathy with onset at the age of 8-18 months. Visual failure, ataxia, muscular hypotonia, microcephalia and myoclonic jerks were typical findings. Fluorescein angiography showed narrowing of the retinal vessels and pigmentary dystrophy as well as optic atrophy. The site of the primary defect was thought to be the pigment epithelium and receptor cells. The ERG was abolished.Key words; amaurotic idiocy -infantile neuronal ceroid lipofuscinosis -receptor cell layer -pigment epithelium -ERG in neuronal ceroid lipofuscinosis -fluorescein angiography in neuronal ceroid lipofuscinosis.

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“…The absence of ERG response in patient 3 as early as at 7 years of age and in patient 4 at the age of 14 years, indicates a great disorder of the outer retinal layers. Copenhaver & Goodman (1960) found absent or markedly depressed ERG in juvenile amaurotic family idiocy as opposed to a normal or borderline ERG in infantile amaurotic family idiocy. In patient 1 ERG was present though reduced at the age of 7 years.…”

Section: Discussionmentioning

confidence: 81%

“…Oatman (1911) found central scotoma for green and red as one of the earliest manifestations. Copenhaver & Goodman (1960), in one patient found impaired colour discrimination which could not be classified. In a report of Roizin et al (1962) of adult hereditary cerebro-macular degeneration, severe colour blindness was found in one patient, a male, having considerable visual loss and a further detorioration of vision in bright light.…”

Section: Discussionmentioning

confidence: 92%

Familial Cerebro‐macular Degeneration (The Stengel‐batten‐mayou‐spielmeyer‐vogt‐stock Disease): Evaluation of the Photoreceptors

Hansen

1979

Acta Ophthalmologica

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In 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.

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The Electroretinogram in Infantile, Late Infantile, and Juvenile Amaurotic Family Idiocy

Cited by 36 publications

References 16 publications

Electroretinogram and visual evoked response in a form of `neuronal lipidosis' with diagnostic EEG features

Electroretinogram and visual evoked response in a form of `neuronal lipidosis' with diagnostic EEG features

Ophthalmological Findings in Infantile Type of So‐called Neuronal Ceroid Lipofuscinosis

Familial Cerebro‐macular Degeneration (The Stengel‐batten‐mayou‐spielmeyer‐vogt‐stock Disease): Evaluation of the Photoreceptors

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