Electroretinography (ERG) and hereditary transmission in some neurologic heredo-degenerative diseases.
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Biomedical subjects
Publications and source records attributed to B Stanescu.
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In a family with cone-rod dystrophy of autosomal recess inheritance, the diagnosis was established by characteristic abnormalities of the ERG, which demonstrates cone responses reduced in amplitude and delayed in implicit time, and rod delayed implicit time in two sisters with macular degeneration. The abnormalities of the implicit time are seen also in two other sisters of the propositi, who are clinically normal. The hypothesis that they are only capable to transmit the gene defect to their offspring is advanced.
Electroretinographic and electroencephalographic studies were conducted in a 12-year-old boy with nephronophthisis, chronic hepatic fibrosis, mental retardation and tapetoretinal degeneration (Senior-Boichis syndrome). Markedly reduced ERG amplitudes and flat oscillatory potentials were found in the proband. Delayed scotopic implicit time and reduced amplitudes of the beta-wave were found in the mother's ERG. ERG may identify the carrier state of the Senior-Boichio syndrome.
Electroretinographic records of eight patients with myotonic dystrophy (Steinert's) in ganzfeld and single-flash stimulation showed a decrease of the b-wave amplitude and a delayed scotopic implicit time.
The effects of acetazolamied on the cerebral circulation and metabolism was previously shown to be due to a raised PCO2 in brain tissue. The effects of the drug on the human electroretinogram (ERG) are investigated in fifteen human volunteer subjects. A significant increase in the b-wave was found. A similitude with the mechanism of acetazolamide administration in brain and retinal tissue seems to be a possible explanation.
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