The phenotypic variability of HK1-associated retinal dystrophy

Zhisheng Yuan, Baiyu Li, Mingchu Xu, Emmanuel Y. Chang, Huajin Li, Lizhu Yang, Shijing Wu, Zachry T. Soens, Yumei Li, Lee Jun C. Wong, Richard A. Lewis, Ruifang Sui, Rui Chen

Research output: Contribution to journalArticlepeer-review

16 Scopus citations


Inherited retinal dystrophies (IRDs) are a clinically and genetically heterogeneous group of Mendelian disorders primarily affecting photoreceptor cells. The same IRD-causing variant may lead to different retinal symptoms, demonstrating pleiotropic phenotype traits influenced by both underlying genetic and environmental factors. In the present study, we identified four unrelated IRD families with the HK1 p.E851K variant, which was previously reported to cause autosomal dominant retinitis pigmentosa (RP), and described their detailed clinical phenotypes. Interestingly, we found that in addition to RP, this particular variant can also cause dominant macular dystrophy and cone-rod dystrophy, which primarily affect cone photoreceptors instead of rods. Our results identified pleiotropic effects for an IRD-causing variant and provide more insights into the involvement of a hexokinase in retinal pathogenesis.

Original languageEnglish (US)
Article number7051
JournalScientific Reports
Issue number1
StatePublished - Dec 1 2017

ASJC Scopus subject areas

  • General


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