Wataru Yamada1, Akira Takekoshi2, Kyoko Ishida3, Kiyofumi Mochizuki4, Jun Sone5, Gen Sobue6, Yuichi Hayashi2, Takashi Inuzuka2, Yozo Miyake7. 1. Department of Ophthalmology, Gifu University Graduate School of Medicine, 1-1, Yanagido, Gifu-shi, Gifu, 501-1194, Japan. 2. Department of Neurology and Geriatrics, Gifu University Graduate School of Medicine, 1-1, Yanagido, Gifu-shi, Gifu, 501-1194, Japan. 3. Department of Ophthalmology, Toho University Ohashi Medical Center, 2-17-6, Ohashi, Muguro-ku, Tokyo, 153-0004, Japan. 4. Department of Ophthalmology, Gifu University Graduate School of Medicine, 1-1, Yanagido, Gifu-shi, Gifu, 501-1194, Japan. mochi-gif@umin.ac.jp. 5. Department of Neurology, Nagoya University Graduate School of Medicine, 65, Tsurumai-cho, Shouwa-ku, Nagoya-shi, Aichi, 466-8560, Japan. 6. Brain and Mind Research Center, Nagoya University Graduate School of Medicine, 65, Tsurumai-cho, Shouwa-ku, Nagoya-shi, Aichi, 466-8560, Japan. 7. Aichi Medical University, 1-2, Yazakokarimata, Nagakute-shi, Aichi, 480-1195, Japan.
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.
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.
Authors: Daphne L McCulloch; Michael F Marmor; Mitchell G Brigell; Ruth Hamilton; Graham E Holder; Radouil Tzekov; Michael Bach Journal: Doc Ophthalmol Date: 2014-12-14 Impact factor: 2.379