Multimodal fundus imaging in fundus albipunctatus with RDH5 mutation: a newly identified compound heterozygous mutation and review of the literature

@article{Wang2012MultimodalFI,
  title={Multimodal fundus imaging in fundus albipunctatus with RDH5 mutation: a newly identified compound heterozygous mutation and review of the literature},
  author={N. C. Wang and L H Chuang and C C Lai and Chai Lin Chou and Hsueh-Yen Chu and Ling Yeung and Yen-Po Chen and K W Chen and Wei-Chi Wu and Tun-Lu Chen and An-Ning Chao and Yih-Shiou Hwang},
  journal={Documenta Ophthalmologica},
  year={2012},
  volume={125},
  pages={51-62}
}
The aim of this study was to describe multimodal retinal imaging of fundus albipunctatus (FA) with the newly identified compound heterozygous RDH5 mutation and to review the relevant literature. Five family members were examined, and the RDH5 gene was analyzed by direct sequencing. The clinical features and genetic study of FA are reviewed. The proband had a compound heterozygotic missense mutation of Cys59Ser (TGC → AGC) and a nonsense mutation of Trp95ter (TGG → TGA) in the RDH5 gene. Fundus… CONTINUE READING
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