Genetic testing for retinitis punctata albescens/fundus albipunctatus

1. Humbert G, Delettre C, Sénéchal A, Bazalgette C, Barakat A, Bazalgette C, et al. Homozygous deletion related to Alu repeats in RLBP1 causes retinitis punctata albescens. Invest Ophthalmol Vis Sci. 2006 Nov;47(11):4719-24. PubMed PMID: 17065479.10.1167/iovs.05-1488Search in Google Scholar

2. Dryja TP. Molecular genetics of Oguchi disease, fundus albipunctatus, and other forms of stationary night blindness: LVII Edward Jackson Memorial Lecture. Am J Ophthalmol. 2000 Nov;130(5):547-63. PubMed PMID: 11078833.10.1016/S0002-9394(00)00737-6Search in Google Scholar

3. Wang NK, Chuang LH, Lai CC, Chou CL, Chu HY, Yeung L, et al. Multimodal fundus imaging in fundus albipunctatus with RDH5 mutation: a newly identified compound heterozygous mutation and review of the literature. Doc Ophthalmol. 2012 Aug;125(1):51-62. PubMed PMID: 22669287. Epub 2012/06/06.10.1007/s10633-012-9336-z22669287Search in Google Scholar

4. Katsanis N, Shroyer NF, Lewis RA, Cavender JC, Al-Rajhi AA, Jabak M, Lupski JR. Fundus albipunctatus and retinitis punctata albescens in a pedigree with an R150Q mutation in RLBP1. Clin Genet. 2001 Jun;59(6):424-9. PubMed PMID: 11453974.10.1034/j.1399-0004.2001.590607.x11453974Search in Google Scholar

5. Skorczyk-Werner A, Pawłowski P, Michalczuk M, Warowicka A, Wawrocka A, Wicher K, et al. Fundus albipunctatus: review of the literature and report of a novel RDH5 gene mutation affecting the invariant tyrosine (p.Tyr175Phe). J Appl Genet. 2015 Aug;56(3):317-27. PubMed PMID: 25820994; PubMed Central PMCID: PMC4543405. Epub 2015/03/28.Search in Google Scholar

6. Morimura H, Berson EL, Dryja TP. Recessive mutations in the RLBP1 gene encoding cellular retinaldehyde-binding protein in a form of retinitis punctata albescens. Invest Ophthalmol Vis Sci. 1999 Apr;40(5):1000-4. PubMed PMID: 10102299. Search in Google Scholar

7. Fishman GA, Roberts MF, Derlacki DJ, Grimsby JL, Yamamoto H, Sharon D, et al. Novel mutations in the cellular retinaldehyde-binding protein gene (RLBP1) associated with retinitis punctata albescens: evidence of interfamilial genetic heterogeneity and fundus changes in heterozygotes. Arch Ophthalmol. 2004 Jan;122(1):70-5. PubMed PMID: 14718298.Search in Google Scholar

8. Dessalces E, Bocquet B, Bourien J, Zanlonghi X, Verdet R, Meunier I, CP Hamel. Early-onset foveal involvement in retinitis punctata albescens with mutations in RLBP1. JAMA Ophthalmol. 2013 Oct;131(10):1314-23. PubMed PMID: 23929416.10.1001/jamaophthalmol.2013.447623929416Search in Google Scholar

9. 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

10. 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 2012/09/01.10.1016/j.ophtha.2012.05.04722944025Search in Google Scholar