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References

  • 1
    Waardenburg PJ, Franceschetti A, Klein D. Genetics and ophthalmology. Netherlands/Oxford/Springfield, IL: Royal VanGorcum, Publisher Assen/Blackwell Scientific Publications, Ltd./Charles C. Thomas, 1961.
  • 2
    Falls HF. Sex-linked ocular albinism displaying typical fundus changes in female heterozygote. Am J Ophthalmol 1951: 34: 4150.
  • 3
    Falls HF. The role of heredity in ophthalmology. N Y State J Med 1951: 22: 2624.
  • 4
    Horner J. Die Erblichkeit des Daltonismus. In: Amtlicher Bericht überdie Verwaltung des Medizinalwesens des Kantons Zurich vom Jahr 1876. Zurich: Druck der Genossenschaftsbuchdruckerei, 1876: 208211.
  • 5
    Friend SH, Bernards R, Rogelj S et al. A human DNA segment with properties of the gene that predisposes to retinoblastoma and osteosarcoma. Nature 1986: 323: 643646.
  • 6
    Nathans J, Piantanida TP, Eddy RL, Shows TB, Hogness DS. Molecular genetics of inherited variation in human color vision. Science 1986: 232: 203210.
  • 7
    Nathans J, Thomas D, Hogness DS. Molecular genetics of human color vision: the genes encoding blue, green, and red pigments. Science 1986: 232: 193202.
  • 8
    Breuer DK, Yashar BM, Filippova E et al. A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosa. Am J Hum Genet 2002: 70: 15451554.
  • 9
    Sharon D, Sandberg MA, Rabe VW, Stillberger M, Dryja TP, Berson EL. RP2 and RPGR mutations and clinical correlations in patients with X-linked retinitis pigmentosa. Am J Hum Genet 2003: 73: 11311146.
  • 10
    Warren JF, Abbott RL, Yoon MK, Crawford JB, Spencer WH, Margolis TP. A new mutation (Leu569Arg) within exon 13 of the TGFBI (BIGH3) gene causes lattice corneal dystrophy type I. Am J Ophthalmol 2003: 136: 872878.
  • 11
    Edwards AO, Ritter R 3rd, Abel KJ, Manning A, Panhuysen C, Farrer LA. Complement factor H polymorphism and age-related macular degeneration. Science 2005: 308: 421424.
  • 12
    Hageman GS, Anderson DH, Johnson LV et al. A common haplotype in the complement regulatory gene factor H (HF1/CFH) predisposes individuals to age-related macular degeneration. Proc Natl Acad Sci USA 2005: 102: 72277232.
  • 13
    Haines JL, Hauser MA, Schmidt S et al. Complement factor H variant increases the risk of age-related macular degeneration. Science 2005: 308: 419421.
  • 14
    Klein RJ, Zeiss C, Chew EY et al. Complement factor H polymorphism in age-related macular degeneration. Science 2005: 308: 385389.
  • 15
    Zareparsi S, Branham KE, Li M et al. Strong association of the Y402H variant in complement factor H at 1q32 with susceptibility to age-related macular degeneration. Am J Hum Genet 2005: 77: 149153.
  • 16
    Bainbridge JW, Smith AJ, Barker SS et al. Effect of gene therapy on visual function in Leber's congenital amaurosis. N Engl J Med 2008: 358: 22312239.
  • 17
    Cideciyan AV, Aleman TS, Boye SL et al. Human gene therapy for RPE65 isomerase deficiency activates the retinoid cycle of vision but with slow rod kinetics. Proc Natl Acad Sci USA 2008: 105: 1511215117.
  • 18
    Hauswirth WW, Aleman TS, Kaushal S et al. Treatment of Leber congenital amaurosis due to RPE65 mutations by ocular subretinal injection of adeno-associated virus gene vector: short-term results of a phase I trial. Hum Gene Ther 2008: 19: 979990.
  • 19
    Maguire AM, Simonelli F, Pierce EA et al. Safety and efficacy of gene transfer for Leber's congenital amaurosis. N Engl J Med 2008: 358: 22402248.
  • 20
    Cideciyan AV, Hauswirth WW, Aleman TS et al. Human RPE65 gene therapy for Leber congenital amaurosis: persistence of early visual improvements and safety at 1 year. Hum Gene Ther 2009: 20: 9991004.
  • 21
    Cideciyan AV, Hauswirth WW, Aleman TS et al. Vision 1 year after gene therapy for Leber's congenital amaurosis. N Engl J Med 2009: 361: 725727.
  • 22
    Maguire AM, High KA, Auricchio A et al. Age-dependent effects of RPE65 gene therapy for Leber's congenital amaurosis: a phase 1 dose-escalation trial. Lancet 2009: 374: 15971605.
  • 23
    Simonelli F, Maguire AM, Testa F et al. Gene therapy for Leber's congenital amaurosis is safe and effective through 1.5 years after vector administration. Mol Ther 2010: 18 (3): 643650.
  • 24
    Cideciyan AV, Jacobson SG, Beltran WA et al. Human retinal gene therapy for Leber congenital amaurosis shows advancing retinal degeneration despite enduring visual improvement. Proc Natl Acad Sci USA 2013: 110 (6): E517E525.
  • 25
    Boye SE, Boye SL, Lewin AS, Hauswirth WW. A comprehensive review of retinal gene therapy. Mol Ther 2013: 21 (3): 509519.
  • 26
    Goetz KE, Reeves MJ, Tumminia SJ, Brooks BP. eyeGENE®: a novel approach to combine clinical testing and researching genetic ocular disease. Curr Opin Ophthalmol 2012: 23 (5): 355363.
  • 27
    Noriko Miyake N, Chilton J, Psatha M et al. Human CHN1 mutations hyperactivate α2-chimaerin and cause Duane's retraction syndrome. Science 2008: 321 (5890): 839843.
  • 28
    Tischfield MA, Baris HN, Wu C et al. Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance. Cell 2010: 140 (1): 7487.
  • 29
    Cederquist GY, Luchniak A, Tischfield MA et al. An inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervation. Hum Mol Genet 2012: 21 (26): 54845499.
  • 30
    Schoenberger SD, Agarwal A. A novel mutation at the N-terminal domain of the TIMP3 gene in Sorsby fundus dystrophy. Retina 2013: 33 (2): 429435.
  • 31
    Huang AS, Kim LA, Fawzi AA. Clinical characteristics of a large choroideremia pedigree carrying a novel CHM mutation. Arch Ophthalmol 2012: 130 (9): 11841189.
  • 32
    Chen Y, Ratnam K, Sundquist SM et al. Cone photoreceptor abnormalities correlate with vision loss in patients with Stargardt disease. Invest Ophthalmol Vis Sci 2011: 52 (6): 32813292.
  • 33
    Duncan JL, Ratnam K, Birch DG et al. Abnormal cone structure in foveal schisis cavities in X-linked retinoschisis from mutations in exon 6 of the RS1 gene. Invest Ophthalmol Vis Sci 2011: 52 (13): 96149623.
  • 34
    Churchill JD, Bowne SJ, Sullivan LS et al. Mutations in the X-linked retinitis pigmentosa genes RPGR and RP2 found in 8.5% of families with a provisional diagnosis of autosomal dominant retinitis pigmentosa. Invest Ophthalmol Vis Sci 2013: 54: 14111416.
  • 35
    Fahim AT, Bowne SJ, Sullivan LS et al. Allelic heterogeneity and genetic modifier loci contribute to clinical variation in males with X-linked retinitis pigmentosa due to mutations in RPGR. PLoS One 2011: 6 (8): e23021.
  • 36
    Friedman JS, Ray JW, Waseem N et al. Mutations in a novel BTB-Kelch protein, KLHL7, cause autosomal dominant retinitis pigmentosa. Am J Hum Genet 2009: 84: 792800.
  • 37
    Song J, Smaoui N, Ayyagari R et al. High-throughput retina-array for screening 93 genes involved in inherited retinal dystrophy. Invest Ophthalmol Vis Sci 2011: 52: 90539060.
  • 38
    Bowne SJ, Sullivan LS, Koboldt DC et al. Identification of disease-causing mutations in autosomal dominant retinitis pigmentosa (adRP) using next-generation DNA sequencing. Invest Ophthalmol Vis Sci 2011: 52: 494503.
  • 39
    Bowne SJ, Humphries MM, Sullivan LS et al. A dominant-acting mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvement. Eur J Hum Genet 2011: 10: 18.