Basal laminar drusen caused by compound heterozygous variants in the CFH gene.

@article{Boon2008BasalLD,
  title={Basal laminar drusen caused by compound heterozygous variants in the CFH gene.},
  author={Camiel J. F. Boon and B. Jeroen Klevering and Carel B. Hoyng and Marijke N. Zonneveld-Vrieling and Sander B. Nabuurs and Ellen A. W. Blokland and Frans P. M. Cremers and Anneke I. den Hollander},
  journal={American journal of human genetics},
  year={2008},
  volume={82 2},
  pages={516-23}
}
Age-related macular degeneration (AMD) is a multifactorial disease that is strongly associated with the Tyr402His variant in the complement factor H (CFH) gene. Drusen are hallmark lesions of AMD and consist of focal-inflammatory and/or immune-mediated depositions of extracellular material at the interface of the retinal pigment epithelium (RPE) and the Bruch membrane. We evaluated the role of CFH in 30 probands with early-onset drusen and identified heterozygous nonsense, missense, and splice… CONTINUE READING

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References

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Showing 1-10 of 27 references

An update on the genetics of age-related macular degeneration

  • H. P. Scholl, M. Fleckenstein, I. P. Charbel, C. Keilhauer, F. G. Holz, B. H. Weber
  • Mol. Vis
  • 2007
1 Excerpt

Localisation of the third and fourth C 3 b - binding domains in the human complement regulator factor H

  • R. J. Ormsby, K. M. Griggs, D. L. Gordon, T. S. Jokiranta
  • Mol . Immunol .
  • 2007

Localisation of the third and fourth C3b-binding domains in the human complement regulator factor

  • R. J. Ormsby, K. M. Griggs, D. L. Gordon, T. S. Jokiranta
  • H. Mol. Immunol
  • 2007
1 Excerpt

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