Dual phenotype: co-occurring Leber congenital amaurosis and familial exudative vitreoretinopathy: a case report

References

• Deignan JL, Chung WK, Kearney HM, Monaghan KG, Rehder CW, Chao EC. Points to consider in the reevaluation and reanalysis of genomic test results: a statement of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2019;21(6):1267–70. doi:10.1038/s41436-019-0478-1.
   PubMed Web of Science ®Google Scholar
• Dillon OJ, Lunke S, Stark Z, Yeung A, Thorne N, Gaff C, White SM, Tan TY. Exome sequencing has higher diagnostic yield compared to simulated disease-specific panels in children with suspected monogenic disorders. Eur J Hum Genet. 2018;26(5):644–51. doi:10.1038/s41431-018-0099-1.
   PubMed Web of Science ®Google Scholar
• Estrada-Cuzcano A, Koenekoop RK, Coppieters F, Kohl S, Lopez I, Collin RWJ, De Baere EBW, Roeleveld D, Marek J, Bernd A, et al. IQCB1 mutations in patients with Leber congenital amaurosis. Invest Ophthalmol Vis Sci. 2011;52(2):834–39. doi:10.1167/iovs.10-5221.
   PubMed Web of Science ®Google Scholar
• Sallum JMF, Motta FL, Arno G, Porto FBO, Resende RG, Belfort R, Jr. Clinical and molecular findings in a cohort of 152 Brazilian severe early onset inherited retinal dystrophy patients. Am J Med Genet C Semin Med Genet. 2020;184(3):728–52. doi:10.1002/ajmg.c.31828.
   PubMed Web of Science ®Google Scholar
• Otto EA, Loeys B, Khanna H, Hellemans J, Sudbrak R, Fan S, Muerb U, O’Toole JF, Helou J, Attanasio M, et al. Nephrocystin-5, a ciliary IQ domain protein, is mutated in senior-loken syndrome and interacts with RPGR and calmodulin. Nat Genet. 2005;37(3):282–88. doi:10.1038/ng1520.
   PubMed Web of Science ®Google Scholar
• Chaki M, Hoefele J, Allen SJ, Ramaswami G, Janssen S, Bergmann C, Heckenlively JR, Otto EA, Hildebrandt F. Genotype–phenotype correlation in 440 patients with NPHP-related ciliopathies. Kidney Int. 2011;80(11):1239–45. doi:10.1038/ki.2011.284.
   PubMed Web of Science ®Google Scholar
• Wang X, Wang H, Sun V, Tuan H-F, Keser V, Wang K, Ren H, Lopez I, Zaneveld JE, Siddiqui S, et al. Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing. J Med Genet. 2013;50(10):674–88. doi:10.1136/jmedgenet-2013-101558.
   PubMed Web of Science ®Google Scholar
• Meitinger T, Meindl A, Bork P, Rost B, Sander C, Haasemann M, Murken J. Molecular modelling of the Norrie disease protein predicts a cystine knot growth factor tertiary structure. Nat Genet. 1993;5(4):376–80. doi:10.1038/ng1293-376.
   PubMed Web of Science ®Google Scholar
• Xu Q, Wang Y, Dabdoub A, Smallwood PM, Williams J, Woods C, Kelley MW, Jiang L, Tasman W, Zhang K, et al. Vascular development in the retina and inner ear: control by Norrin and Frizzled-4, a high-affinity ligand-receptor pair. Cell. 2004;116(6):883–95. doi:10.1016/S0092-8674(04)00216-8.
   PubMed Web of Science ®Google Scholar
• Chang TH, Hsieh FL, Zebisch M, Harlos K, Elegheert J, Jones EY. Structure and functional properties of Norrin mimic Wnt for signalling with frizzled4, Lrp5/6, and proteoglycan. Elife. 2015;4. doi:10.7554/eLife.06554.
   Web of Science ®Google Scholar
• Dickinson JL, Sale MM, Passmore A, FitzGerald LM, Wheatley CM, Burdon KP, Craig JE, Tengtrisorn S, Carden SM, Maclean H, et al. Mutations in the NDP gene: contribution to Norrie disease, familial exudative vitreoretinopathy and retinopathy of prematurity. Clin Exp Ophthalmol. 2006;34(7):682–88. doi:10.1111/j.1442-9071.2006.01314.x.
   PubMed Web of Science ®Google Scholar
• Liu HY, Huang J, Wang RL, Wang Y, Guo LJ, Li T, Wu D, Wang HD, Guo QN, Dong DQ. A novel missense mutation of NDP in a Chinese family with X-linked familial exudative vitreoretinopathy. J Chin Med Assoc. 2016;79(11):633–38. doi:10.1016/j.jcma.2016.08.002.
   PubMed Web of Science ®Google Scholar
• Drenser KA, Fecko A, Dailey W, Trese MT. A characteristic phenotypic retinal appearance in Norrie disease. Retina. 2007;27(2):243–46. doi:10.1097/01.iae.0000231380.29644.c3.
   PubMed Web of Science ®Google Scholar
• Tang M, Sun L, Hu A, Yuan M, Yang Y, Peng X, Ding X. Mutation spectrum of the LRP5, NDP, and TSPAN12 genes in Chinese patients with familial exudative vitreoretinopathy. Invest Ophthalmol Vis Sci. 2017;58(13):5949–57. doi:10.1167/iovs.17-22577.
   PubMed Web of Science ®Google Scholar
• Wang Z, Liu CH, Huang S, Chen J. Wnt signaling in vascular eye diseases. Prog Retin Eye Res. 2019;70:110–33. doi:10.1016/j.preteyeres.2018.11.008.
   PubMed Web of Science ®Google Scholar
• Wang Z, Liu CH, Sun Y, Gong Y, Favazza TL, Morss PC, Saba NJ, Fredrick TW, He X, Akula JD, et al. Pharmacologic activation of Wnt signaling by lithium normalizes retinal vasculature in a murine model of familial exudative vitreoretinopathy. Am J Pathol. 2016;186(10):2588–600. doi:10.1016/j.ajpath.2016.06.015.
   PubMed Web of Science ®Google Scholar
• Cringle SJ, Yu DY. A multi-layer model of retinal oxygen supply and consumption helps explain the muted rise in inner retinal PO(2) during systemic hyperoxia. Comp Biochem Physiol A Mol Integr Physiol. 2002;132(1):61–66. doi:10.1016/S1095-6433(01)00530-X.
   PubMed Web of Science ®Google Scholar
• Cringle SJ, Yu DY, Yu PK, Su EN. Intraretinal oxygen consumption in the rat in vivo. Invest Ophthalmol Vis Sci. 2002;43(6):1922–27.
   PubMed Web of Science ®Google Scholar
• Della Volpe Waizel M, Scholl HPN, Valmaggia C, Todorova MG. Retinal vessel oximetry in children with inherited retinal diseases. Acta Ophthalmol. 2021;99(1):52–60. doi:10.1111/aos.14466.
   PubMed Web of Science ®Google Scholar
• Smith SE, Mullen TE, Graham D, Sims KB, Rehm HL. Norrie disease: extraocular clinical manifestations in 56 patients. Am J Med Genet A. 2012;158A(8):1909–17. doi:10.1002/ajmg.a.35469.
   PubMed Web of Science ®Google Scholar