Case of adult-onset neuronal intranuclear hyaline inclusion disease with negative electroretinogram.
Doc Ophthalmol
; 134(3): 221-226, 2017 06.
Article
in En
| MEDLINE
| ID: mdl-28332008
ABSTRACT
PURPOSE:
To report the findings in a 72-year-old man with neuronal intranuclear hyaline inclusion disease (NIHID) with the negative-type electroretinogram (ERG) and without night blindness.METHODS:
Standard ophthalmological examinations including the medical history, measurements of the best-corrected visual acuity and intraocular pressures, slit-lamp biomicroscopy, ophthalmoscopy, spectral-domain optical coherence tomography, fundus autofluorescence, and perimetry were performed. In addition, neurological and electrophysiological examinations were performed.RESULTS:
NIHID was confirmed by skin biopsy. The ophthalmologic examinations revealed sluggish pupillary reflexes without visual disturbances and retinal abnormalities. The amplitudes of the dark-adapted 0.01 ERG was absent, and light-adapted 3 ERG and light-adapted 30 Hz flicker ERG were reduced in amplitude and delayed in implicit time. The rod system was more severely affected than the cone system, indicating that NIHID is classified as one of rod-cone dysfunction syndrome. The dark-adapted 3 ERG consisted of a markedly reduced b-wave with larger a-wave (negative ERG), but the amplitude of a-wave was smaller than normal.CONCLUSIONS:
Since the ophthalmoscopical findings and the subjective visual functions may be essentially normal, the characteristic ERG abnormalities can be an important findings in adult-onset NIHID without night blindness.Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Retinal Diseases
/
Vision Disorders
/
Neurodegenerative Diseases
/
Electroretinography
Limits:
Aged
/
Humans
/
Male
Language:
En
Journal:
Doc Ophthalmol
Year:
2017
Type:
Article
Affiliation country:
Japan