Full‐field electroretinograms in a family with Mohr‐Tranebjaerg syndrome
1996; Wiley; Volume: 74; Issue: 6 Linguagem: Inglês
10.1111/j.1600-0420.1996.tb00751.x
ISSN1600-0420
AutoresVesna Ponjavic, Sten Andréasson, Lisbeth Tranebjærg, Herbert A. Lubs,
Tópico(s)Photoreceptor and optogenetics research
ResumoAbstract. 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 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 electroretino‐graphic 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.
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