Abstract
A family with a newly detected X-linked syndrome including sensorineural deafness, mental retardation, dystonia and blindness was examined with full-field electroretinography in order to order to find out if the blindness was caused by a retinal degeneration. Six affected males and 2 obligate carriers showed no signs of retinal degeneration. One of 7 affected males had central areolar choroidal dystrophy confirmed by central scotomas in visual fields and an electroretinographic pattern consisting of an attenuated amplitude as well as a prolonged implicit time of the cone b-wave on stimulation with 30 Hz flickering white light.
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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Adult
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Blindness / complications
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Blindness / pathology
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Blindness / physiopathology*
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Choroid Diseases / complications
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Choroid Diseases / pathology
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Choroid Diseases / physiopathology
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Electroretinography*
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Female
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Fundus Oculi
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Humans
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Male
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Middle Aged
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Orofaciodigital Syndromes / complications*
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Orofaciodigital Syndromes / genetics
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Orofaciodigital Syndromes / physiopathology
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Pedigree
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Retina / physiology*
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Retinal Degeneration / complications
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Retinal Degeneration / pathology
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Retinal Degeneration / physiopathology
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Scotoma / complications
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Scotoma / pathology
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Scotoma / physiopathology
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Visual Acuity