References

Criswick VG, Schepens CL. Familial exudative vitreoretinopathy. Am J Ophthalmol 1969; 68: 578-94.

Kondo H, Qin M, Kusaka S, Tahira T, Hasebe H, Hayashi H, Uchio E, Hayashi K. Novel mutations in Norrie disease gene in Japanese patients with Norrie disease and familial exudative vitreoretinopathy. Invest Ophthalmol Vis Sci. 2007 Mar;48(3):1276-82.

Dickinson JL, Sale MM, Passmore A, FitzGerald LM, Wheatley CM, Burdon KP, Craig JE, Tengtrisorn S, Carden SM, Maclean H, Mackey DA. Mutations in the NDP gene: contribution to Norrie disease, familial exudative vitreoretinopathy and retinopathy of prematurity. Clin Experiment Ophthalmol. 2006 Sep-Oct;34(7):682-8.

Toomes C, Downey LM, Bottomley HM, Mintz-Hittner HA, Inglehearn CF. Further evidence of genetic heterogeneity in familial exudative vitreoretinopathy; exclusion of EVR1, EVR3, and EVR4 in a large autosomal dominant pedigree. Br J Ophthalmol. 2005 Feb;89(2):194-7.

Toomes C. Familial Exudative Vitreoretinopathy, Autosomal Dominant. December 11, 2008. NCBI Bookshelf GeneReviews. [http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene∂=fevr]

Contributors

Katia Marazova, MD, PhD,  Prof. José-Alain Sahel, MD, PhD and Dr Caroline Laurent-Coriat, MD, PhD

Disclaimer: This document contains information based on published scientific articles and is for educational purposes only. It is in no way intended as a substitute for qualified medical professional help, advice, diagnosis or treatment.