Familial exudative vitreoretinopathy (FEVR)
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Familial exudative vitreoretinopathy (FEVR). This is mainly caused by NDP gene mutations on chromosome X. Fully referenced neurology checklist.
Genetics
- This is mainly caused by NDP gene mutations on chromosome X
- The gene encodes norrin: this regulates retinal angiogenesis
- The transmission is
- It can also be caused by FZD4, LRP5, TSPAN12, KIF11 and CTNNB1 gene mutations
Other NDP-related disorders
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Classification
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Clinical features
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Neurological features
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Investigations
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Treatment
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References
- Wawrzynski J, Patel A, Badran A, Dowell I, Henderson R, Sowden JC. Spectrum of Mutations in NDP resulting in ocular disease; a systematic review Front Genet 2022; 13:884722.
- Sızmaz S, Yonekawa Y, T Trese M. Familial exudative vitreoretinopathy. Turk J Ophthalmol 2015; 45:164-168.
- Sun W, Xiao X, Li S, Jia X, Wang P, Zhang Q. Germline mutations in CTNNB1 associated with syndromic FEVR or Norrie disease. Invest Ophthalmol Vis Sci 2019; 60:93-97.
- Liu J, Zhu J, Yang J, Zhang X, Zhang Q, Zhao P. Prenatal diagnosis of familial exudative vitreoretinopathy and Norrie disease. Mol Genet Genomic Med 2019; 7:e00503.
