1. bookVolume 1 (2017): Issue s1 (October 2017)
    EBTNA Utility Gene Test on Ophthalmology
Journal Details
License
Format
Journal
eISSN
2564-615X
First Published
30 Jan 2017
Publication timeframe
4 times per year
Languages
English
access type Open Access

Genetic testing for congenital stationary night blindness

Published Online: 27 Oct 2017
Volume & Issue: Volume 1 (2017) - Issue s1 (October 2017) - EBTNA Utility Gene Test on Ophthalmology
Page range: 38 - 40
Journal Details
License
Format
Journal
eISSN
2564-615X
First Published
30 Jan 2017
Publication timeframe
4 times per year
Languages
English
Abstract

We studied the scientific literature and disease guidelines in order to summarize the clinical utility of the genetic test for congenital stationary night blindness (CSNB). CSNB is inherited in an autosomal dominant manner in the case of mutations in the GNAT1, PDE6B and RHO genes, in an autosomal recessive manner in the case of mutations in the CABP4, GNB3, GPR179, GRM6, LRIT3, SAG, SLC24A1, TRPM1 and genes and in an X-linked recessive manner in the case of mutations in the CACNA1F and NYX genes. The overall prevalence of CSNB is not known. Clinical diagnosis is based on clinical findings, ophthalmological examination, visual evoked potentials and electroretinography. The genetic test is useful for confirming diagnosis and for differential diagnosis, couple risk assessment and access to clinical trials.

1. Bech-Hansen NT, Naylor MJ, Maybaum TA, Sparkes RL, Koop B, Birch DG, et al. Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindness. Nat Genet. 2000 Nov; 26(3):319-23. PubMed PMID: 11062471.10.1038/81619Search in Google Scholar

2. Pusch CM, Zeitz C, Brandau O, Pesch K, Achatz H, Feil S, et al. The complete form of X-linked congenital stationary night blindness is caused by mutations in a gene encoding a leucine-rich repeat protein. Nat Genet. 2000 Nov; 26(3):324-7. PubMed PMID: 11062472.10.1038/81627Search in Google Scholar

3. Riazuddin SA, Shahzadi A, Zeitz C, Ahmed ZM, Ayyagari R, Chavali VR, et al. A mutation in SLC24A1 implicated in autosomal-recessive congenital stationary night blindness. Am J Hum Genet. 2010 Oct; 87(4):523-31. PubMed PMID: 20850105. PubMed Central PMCID: PMC2948789. Epub 2010/09/16.Search in Google Scholar

4. Bech-Hansen NT, Boycott KM, Gratton KJ, Ross DA, Field LL, Pearce WG. Localization of a gene for incomplete X-linked congenital stationary night blindness to the interval between DXS6849 and DXS8023 in Xp11.23. Hum Genet. 1998 Aug; 103(2):124-30. PubMed PMID: 9760193.10.1007/s004390050794Search in Google Scholar

5. Boycott KM, Pearce WG, Musarella MA, Weleber RG, Maybaum TA, DG Birch, et al. Evidence for genetic heterogeneity in X-linked congenital stationary night blindness. Am J Hum Genet. 1998 Apr; 62(4):865-75. PubMed PMID: 9529339; PubMed Central PMCID: PMC1377021.10.1086/301781Search in Google Scholar

6. Boycott KM, Pearce WG, Bech-Hansen NT. Clinical variability among patients with incomplete X-linked congenital stationary night blindness and a founder mutation in CACNA1F. Can J Ophthalmol. 2000 Jun; 35(4):204-13. PubMed PMID: 10900517.10.1016/S0008-4182(00)80031-9Search in Google Scholar

7. Rigaudière F, Roux C, Lachapelle P, Rosolen SG, Bitoun P, Gay-Duval A, Le Gargasson JF. ERGs in female carriers of incomplete congenital stationary night blindness (I-CSNB). A family report. Doc Ophthalmol. 2003 Sep; 107(2):203-12. PubMed PMID: 14661912.10.1023/A:1026212318245Search in Google Scholar

8. Boycott KM, Sauvé Y, MacDonald IM. X-Linked Congenital Stationary Night Blindness. In: RA Pagon, MP Adam, HH Ardinger, SE Wallace, A Amemiya, LJH Bean, et al., editors. GeneReviews®. Seattle (WA) 1993-2017.Search in Google Scholar

9. Zeitz C, Robson AG, Audo I. Congenital stationary night blindness: an analysis and update of genotype-phenotype correlations and pathogenic mechanisms. Prog Retin Eye Res. 2015 Mar; 45:58-110. PubMed PMID: 25307992. Epub 2014/10/13.Search in Google Scholar

10. Chen B, Gagnon M, Shahangian S, Anderson NL, Howerton DA, Boone JD. Good laboratory practices for molecular genetic testing for heritable diseases and conditions. MMWR Recomm Rep. 2009 Jun; 58(RR-6):1-37; PubMed PMID: 19521335.Search in Google Scholar

11. Stone EM, Aldave AJ, Drack AV, Maccumber MW, Sheffield VC, Traboulsi E, Weleber RG. Recommendations for genetic testing of inherited eye diseases: report of the American Academy of Ophthalmology task force on genetic testing. Ophthalmology. 2012 Nov; 119(11):2408-10. PubMed PMID: 22944025. Epub 2012/09/01.Search in Google Scholar

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