Full-field electroretinograms in a family with Mohr-Tranebjaerg syndrome.
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.
Ponjavic
V
V
Department of Ophthalmology, University Hospital of Lund, Sweden.
Andreasson
S
S
Tranebjaerg
L
L
Lubs
H A
HA
D000328:Adult; D001766:Blindness / Q000150:complications / Q000473:pathology / Q000503:physiopathology*; D015862:Choroid Diseases / Q000150:complications / Q000473:pathology / Q000503:physiopathology; D004596:Electroretinography; D005260:Female; D005654:Fundus Oculi; D006801:Humans; D008297:Male; D008875:Middle Aged; D009958:Orofaciodigital Syndromes / Q000150:complications* / Q000235:genetics / Q000503:physiopathology; D010375:Pedigree; D012160:Retina / Q000502:physiology*; D012162:Retinal Degeneration / Q000150:complications / Q000473:pathology / Q000503:physiopathology; D012607:Scotoma / Q000150:complications / Q000473:pathology / Q000503:physiopathology; D014792:Visual Acuity