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Makoto Nakamura, Yoshihiro Hotta, Atsuhiro Tanikawa, Hiroko Terasaki, Yozo Miyake; A High Association with Cone Dystrophy in Fundus Albipunctatus Caused by Mutations of the RDH5 Gene. Invest. Ophthalmol. Vis. Sci. 2000;41(12):3925-3932.
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purpose. To analyze the RDH5 gene in patients with fundus
albipunctatus with and without cone dystrophy and to determine whether
the disease is stationary or progressive and whether the cone dystrophy
is a part of fundus albipunctatus or a separate disease.
methods. Fourteen patients from 12 separate Japanese families with fundus
albipunctatus were examined. Six of the patients from 6 families also
had a cone dystrophy. Genomic DNA was extracted from leukocytes of the
peripheral blood, and exons 2, 3, 4, and 5 of the RDH5 gene
were amplified by polymerase chain reaction and were directly
sequenced. A complete ophthalmic examination was performed including
best-corrected visual acuity, slit-lamp examination, indirect
ophthalmoscopy, fundus photography, and electroretinography.
results. In all the patients, either a homozygous mutation or compound
heterozygous mutations in the RDH5 gene were identified. The
identified mutations were nucleotide position (nt) 103 G to A
(Gly35Ser), nt 319 G to C (Gly107Arg), nt 394 G to A (Val132Met), nt
719 G insertion (frame shift), nt 839 G to A (Arg280His), nt 841 T to C
(Tyr281His), and nt 928 C to GAAG (Leu310 to GluVal). All these
mutations except the Arg280His were new. The nt 928 C to GAAG mutation
was detected in patients with and without cone dystrophy. Cone
dystrophy was most frequently seen in patients over 40 years old.
conclusions. Fundus albipunctatus either with or without cone dystrophy is caused by
mutations of the RDH5 gene. Cone dystrophy is frequently
observed in elderly patients with fundus albipunctatus. The conclusion
was reached that the mutations of the RDH5 gene caused a
progressive cone dystrophy as well as night
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