Chediak-Higashi syndrome with progressive visual loss.
BACKGROUND
The change of visual function in Chediak-Higashi syndrome has not been well described.


METHODS
The visual function of a 12-year-old Japanese girl with ocular albinism due to Chediak-Higashi syndrome was followed by periodic ophthalmological examinations.


METHODS
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.
Sayanagi
Kaori
K
Departments of Ophthalmology; Visual Science, Osaka University Graduate School of Medicine, Osaka, Japan.
Fujikado
Takashi
T
Onodera
Takashi
T
Tano
Yasuo
Y
D016117:Albinism, Ocular / Q000209:etiology*; D002609:Chediak-Higashi Syndrome / Q000150:complications* / Q000175:diagnosis; D002648:Child; D018450:Disease Progression; D004596:Electroretinography; D005260:Female; D006801:Humans; D014786:Vision Disorders / Q000175:diagnosis / Q000209:etiology*; D014792:Visual Acuity; D014794:Visual Fields