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[A case of fundus albipunctatus with a retinol dehydrogenase 5 gene mutation in a child]
K Miyazaki1, A Murakami, S Imamura
1Department of Ophthalmology, National Defense Medical College, 3-2 Namiki, Tokorozawa 359-8513, Japan.
Background:
We examined a family with fundus albipunctatus in which mutation of the retinol dehydrogenase 5(RDH 5) gene was suspected to be the cause of this disease.
Case:
An 8-year-old girl had diffuse multiple white dots in her fundus except for the macula. She had good central vision. The amplitude of her electroretinogram wave was low, but it recovered after three hours of dark adaptation. Dark adaptometry showed an elevated threshold for rod adaptation. No visual field loss was observed. A homozygous missense mutation was found in exon 5 of the RDH 5 gene that substituted histidine for arginine at codon 280(Arg 280 His). Her mother had a normal fundus but was heterozygous for the same mutation.
Conclusion:
A missense mutation of RDH 5(Arg 280 His) was found in a Japanese family with fundus albipunctatus.
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