Norrie disease

Genetics

• This is mainly caused by NDP gene mutations on chromosome X
• The gen encodes norrin: this regulates retinal angiogenesis
• The transmission is X-linked recessive
• Females are usually asymptomatic carriers
• It may also be caused by KIF11 and CTNNB1 gene mutations

Other NDP-related disorders

Pathology

Ophthalmic features

Neurological features

Magnetic resonance imaging (MRI) features

References

1. Cação G, Garrido C, Miranda V, Pinto-Basto J, Chaves J, Chorão R. Refractory epilepsy in Norrie disease. Neurol Sci 2018; 39:1631-1633.
2. Mozo Cuadrado M, Tabuenca Del Barrio L, Zubicoa Enériz A, Antonia Ardanaz Aldave M. Ocular manifestations of Norrie disease. J Fr Ophtalmol 2020; 43:439-441. 
3. 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. 
4. 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.
5. 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.
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