In:
Journal of Child Neurology, SAGE Publications, Vol. 28, No. 10 ( 2013-10), p. 1203-1209
Kurzfassung:
Visual electrophysiological techniques represent excellent means for assessing retinal, optic pathways and visual cortex function. Electroretinograms, visual evoked potentials, and clinical records of 17 patients with mucopolysaccharidosis registered in the neurophysiological database of our institution were reviewed retrospectively. Ten patients were on enzyme replacement therapy, 2 underwent bone marrow transplantation, one also keratoplasty. Changes in the electroretinogram pointed to the diagnosis of retinal dystrophy type rod-cone in 8 patients. In patients in whom severe corneal clouding precluded fundus oculi inspection and at an early stage before typical fundus appearance diagnosis was possible only using the electroretinogram. Visual evoked potentials were useful to confirm the loss of visual function in patients difficult to test clinically. The authors suggest the use of electroretinogram and visual evoked potentials primarily as research tools to describe the natural history and ophthalmologic outcome in mucopolysaccharidoses, although they may have clinical utility in very selected cases.
Materialart:
Online-Ressource
ISSN:
0883-0738
,
1708-8283
DOI:
10.1177/0883073812453322
Sprache:
Englisch
Verlag:
SAGE Publications
Publikationsdatum:
2013
ZDB Id:
2068710-2
