Differential diagnosis of Norrie disease 
and X-linked familial exudative vitreoretinopathy (XL-FEVR) based on clinical and molecular evaluation

Anna Wawrocka; Zuzanna Niedziela; Anna Skorczyk-Werner; Maciej R. Krawczynski

doi:10.5114/ko.2016.71710

POLSKI

eISSN: 2719-3209
ISSN: 0023-2157

Klinika Oczna / Acta Ophthalmologica Polonica

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3/2016
vol. 118

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abstract:

Research paper

Differential diagnosis of Norrie disease and X-linked familial exudative vitreoretinopathy (XL-FEVR) based on clinical and molecular evaluation

Anna Wawrocka

¹

,

Zuzanna Niedziela

^{1, 2}

,

Anna Skorczyk-Werner

¹

,

Maciej R. Krawczynski

^{1, 3}

Chair and Departament of Medical Genetics, Poznan University of Medical Science, Poland
Clinical Eye Unit and Pediatric Ophthalmology Service, Heliodor Swiecicki University Hospital, Poznan University of Medical Sciences, Poznan, Poland
Center for Medical Genetics GENESIS, Poznan, Poland

DOI: https://doi.org/10.5114/ko.2016.71710

Online publish date: 2017/11/29

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AMA

Wawrocka A, Niedziela Z, Skorczyk-Werner A, Krawczynski M. Differential diagnosis of Norrie disease 
and X-linked familial exudative vitreoretinopathy (XL-FEVR) based on clinical and molecular evaluation. Klinika Oczna / Acta Ophthalmologica Polonica. 2016;118(3):231-234. doi:10.5114/ko.2016.71710.

APA

Wawrocka, A., Niedziela, Z., Skorczyk-Werner, A.,  & Krawczynski, M. (2016). Differential diagnosis of Norrie disease 
and X-linked familial exudative vitreoretinopathy (XL-FEVR) based on clinical and molecular evaluation. Klinika Oczna / Acta Ophthalmologica Polonica, 118(3), 231-234. https://doi.org/10.5114/ko.2016.71710

Chicago

Wawrocka, Anna, Zuzanna Niedziela, Anna Skorczyk-Werner,  and Maciej R. Krawczynski. 2016. "Differential diagnosis of Norrie disease 
and X-linked familial exudative vitreoretinopathy (XL-FEVR) based on clinical and molecular evaluation". Klinika Oczna / Acta Ophthalmologica Polonica 118 (3): 231-234. doi:10.5114/ko.2016.71710.

Harvard

Wawrocka, A., Niedziela, Z., Skorczyk-Werner, A.,  and Krawczynski, M. (2016). Differential diagnosis of Norrie disease 
and X-linked familial exudative vitreoretinopathy (XL-FEVR) based on clinical and molecular evaluation. Klinika Oczna / Acta Ophthalmologica Polonica, 118(3), pp.231-234. https://doi.org/10.5114/ko.2016.71710

MLA

Wawrocka, Anna et al. "Differential diagnosis of Norrie disease 
and X-linked familial exudative vitreoretinopathy (XL-FEVR) based on clinical and molecular evaluation." Klinika Oczna / Acta Ophthalmologica Polonica, vol. 118, no. 3, 2016, pp. 231-234. doi:10.5114/ko.2016.71710.

Vancouver

Wawrocka A, Niedziela Z, Skorczyk-Werner A, Krawczynski M. Differential diagnosis of Norrie disease 
and X-linked familial exudative vitreoretinopathy (XL-FEVR) based on clinical and molecular evaluation. Klinika Oczna / Acta Ophthalmologica Polonica. 2016;118(3):231-234. doi:10.5114/ko.2016.71710.

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Background
Molecular analysis of the NDP gene to confirm and precise the clinical diagnosis in two patients with X-linked familial exudative vitreoretinopathy (XL-FEVR).

Material and methods
We report two patients from unrelated families with NDP gene mutations: a 14-month-old boy (p1) who was found to have severe exudative vitreoretinopathy and a 4-year-old boy with exudative vitreoretinopathy (p2). An extensive clinical examination of the probands, including slit-lamp examination, B-mode ultrasonography and magnetic resonance imaging was conducted, along with genetic analysis of NDP gene.

Results
Clinical findings in patient 1 included no light perception, total retinal detachment and hyperplastic primary vitreous in both eyes. The genetic analysis of the NDP gene enabled to identify the novel frameshift mutation c.222_c223insCG in p1 leading to the premature stop codon and production of aberrant norrin protein. In P2, clinical presentation included high myopia with astigmatism, unilateral fibrous bands and retinal detachment. Genetic testing revealed known point mutation c.362G>A leading to amino-acid alteration and improper protein.

Conclusions
Mutation screening of NDP gene identified two different mutations in this region, one of which has not been previously reported.

keywords:

Differential diagnosis of Norrie disease and X-linked familial exudative vitreoretinopathy (XL-FEVR) based on clinical and molecular evaluation

Anna Wawrocka 1 , Zuzanna Niedziela 1, 2 , Anna Skorczyk-Werner 1 , Maciej R. Krawczynski 1, 3

X-linked familial exudative vitreoretinopathy (XL-FEVR), Norrie disease (ND), NDP gene, novel mutation

Anna Wawrocka

¹

,

Zuzanna Niedziela

^{1, 2}

,

Anna Skorczyk-Werner

¹

,

Maciej R. Krawczynski

^{1, 3}