Diagnosis, Monitoring, and Genetic Counseling in Genetic Eye Diseases
Özet
Referanslar
Broadgate S, Yu J, Downes SM, et al. Unravelling the genetics of inherited retinal dystrophies. Hum Mol Genet. 2017;26:R2–R11.
Duncan JL, Pierce EA, Laster AM, et al. Inherited retinal degenerations: current landscape and knowledge gaps. Transl Vis Sci Technol. 2018;7:6.
Stone EM, Andorf JL, Whitmore SS, et al. Clinically focused molecular investigation of inherited eye disorders. Ophthalmology. 2017;124:1314–1331.
Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants. Genet Med. 2015;17:405–424.
Tsang SH, Sharma T. Inherited retinal diseases: diagnosis, management, and gene therapy. Retina. 2018;38:216–225.
Ellingford JM, Barton S, Bhaskar S, et al. Molecular findings from 537 individuals with inherited retinal disease. J Med Genet. 2016;53:761–767.
Verbakel SK, van Huet RAC, Boon CJF, et al. Non-syndromic retinal ciliopathies. Prog Retin Eye Res. 2018;66:157–186.
Clarke AJ. Genetic counselling: practice and principles. J Med Genet. 2019;56:1–6.
Harper JC, Sengupta SB. Preimplantation genetic diagnosis: state of the art. Hum Genet. 2012;131:175–186.
Russell S, Bennett J, Wellman JA, et al. Efficacy and safety of voretigene neparvovec. N Engl J Med. 2017;376:1994–2005.
Daruich A, Rateaux M, Batté E, et al. 12-month outcomes after voretigene neparvovec gene therapy in paediatric patients with RPE65 -mediated inherited retinal dystrophy. Br J Ophthalmol. 2025;109(2):281-285. doi:10.1136/bjo-2024-326221.
Referanslar
Broadgate S, Yu J, Downes SM, et al. Unravelling the genetics of inherited retinal dystrophies. Hum Mol Genet. 2017;26:R2–R11.
Duncan JL, Pierce EA, Laster AM, et al. Inherited retinal degenerations: current landscape and knowledge gaps. Transl Vis Sci Technol. 2018;7:6.
Stone EM, Andorf JL, Whitmore SS, et al. Clinically focused molecular investigation of inherited eye disorders. Ophthalmology. 2017;124:1314–1331.
Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants. Genet Med. 2015;17:405–424.
Tsang SH, Sharma T. Inherited retinal diseases: diagnosis, management, and gene therapy. Retina. 2018;38:216–225.
Ellingford JM, Barton S, Bhaskar S, et al. Molecular findings from 537 individuals with inherited retinal disease. J Med Genet. 2016;53:761–767.
Verbakel SK, van Huet RAC, Boon CJF, et al. Non-syndromic retinal ciliopathies. Prog Retin Eye Res. 2018;66:157–186.
Clarke AJ. Genetic counselling: practice and principles. J Med Genet. 2019;56:1–6.
Harper JC, Sengupta SB. Preimplantation genetic diagnosis: state of the art. Hum Genet. 2012;131:175–186.
Russell S, Bennett J, Wellman JA, et al. Efficacy and safety of voretigene neparvovec. N Engl J Med. 2017;376:1994–2005.
Daruich A, Rateaux M, Batté E, et al. 12-month outcomes after voretigene neparvovec gene therapy in paediatric patients with RPE65 -mediated inherited retinal dystrophy. Br J Ophthalmol. 2025;109(2):281-285. doi:10.1136/bjo-2024-326221.
