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CASE REPORTS
JOURNAL ARTICLE
RESEARCH SUPPORT, NON-U.S. GOV'T
Chediak-Higashi syndrome with progressive visual loss.
Japanese Journal of Ophthalmology 2003 May
BACKGROUND: The change of visual function in Chediak-Higashi syndrome has not been well described.
CASES: The visual function of a 12-year-old Japanese girl with ocular albinism due to Chediak-Higashi syndrome was followed by periodic ophthalmological examinations.
OBSERVATIONS: A lack of pigmentation in the iris and ocular fundus, and pigmentary degeneration of the peripheral retina were observed. The visual loss and the constriction of visual field progressed with increasing age. The electroretinogram was extinguished at 12 years of age.
CONCLUSIONS: The constriction of the visual field may be due to the pigmentary degeneration of the ocular fundus. Ophthalmologists should be aware that progressive visual loss and the constriction of visual field can occur in patients with Chediak-Higashi syndrome as they grow older.
CASES: The visual function of a 12-year-old Japanese girl with ocular albinism due to Chediak-Higashi syndrome was followed by periodic ophthalmological examinations.
OBSERVATIONS: A lack of pigmentation in the iris and ocular fundus, and pigmentary degeneration of the peripheral retina were observed. The visual loss and the constriction of visual field progressed with increasing age. The electroretinogram was extinguished at 12 years of age.
CONCLUSIONS: The constriction of the visual field may be due to the pigmentary degeneration of the ocular fundus. Ophthalmologists should be aware that progressive visual loss and the constriction of visual field can occur in patients with Chediak-Higashi syndrome as they grow older.
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