Retinitis Pigmentosa Bibliography
Clinical Presentation
Marmor MF. Visual loss in retinitis pigmentosa. Am J Ophthalmol. 1980;89(5):692-698.
Heckenlively JR, Heckenlively JR, Yoser SL, Friedman LH, Oversier JJ. Clinical findings and common symptoms in retinitis pigmentosa. Am J Ophthalmol. 1988;105(5):504-511.
Berson EL. Long-term visual prognoses in patients with retinitis pigmentosa: the Ludwig von Sallmann Lecture. Exp Eye Res. 2007;85(1):7-14.
Molecular Biology & Electrophysiology
Shastry BS. Retinitis pigmentosa and related disorders: phenotypes of rhodopsin and peripherin/RDS mutations. Am J Med Genet. 1994;52(4):467-474.
van Soest S, Westerveld A, de Jong PT, Bleeker-Wagemakers EM, Bergen AA. Retinitis pigmentosa: defined from a molecular point of view. Surv Ophthalmol. 1999;43(4):321-334.
Nagy D, Schönfisch B, Zrenner E, Jägle H. Long-term follow-up of retinitis pigmentosa patients with multifocal electroretinography. Invest Ophthalmol Vis Sci. 2008;49(10):4664-4671.
Berger W, Kloeckner-Gruissem B, Neidhardt J. The molecular basis of human retinal and vitreoretinal diseases. Prog Retin Eye Res. 2010;29(5):335-375.
den Hollander AI, Black A, Bennett J, Cremers FP. Lighting a candle in the dark: advances in genetics and gene therapy of recessive retinal dystrophies. J Clin Invest. 2010;120(9):3042-3053.
Goetz KE, Reeves MJ, Gagadam S, et al. Genetic testing for inherited eye conditions in over 6,000 individuals through the eyeGENE network. Am J Med Genet C Semin Med Genet. 2020;184(3):828-837.
Treatments
Fishman GA, Gilbert LD, Fiscella RG, Kimura AE, Jampol LM. Acetazolamide for treatment of chronic macular edema in retinitis pigmentosa. Arch Ophthalmol. 1989;107(10):1445-1452.
Berson EL, Rosner B, Sandberg MA, et al. A randomized trial of vitamin A and vitamin E supplementation for retinitis pigmentosa. Arch Ophthalmol. 1993;111(6):761-772.
He Y, Zhang Y, Liu X, et al. Recent advances of stem cell therapy for retinitis pigmentosa. Int J Mol Sci. 2014;15(8):14456-14474.
Sacchetti M, Mantelli F, Merlo D, Lambiase A. Systematic review of randomized clinical trials on safety and efficacy of pharmacological and nonpharmacological treatments for retinitis pigmentosa. J Ophthalmol. 2015;2015:737053.
Ho AC, Humayun MS, Dorn JD, et al. Long-term results from an epiretinal prosthesis to restore sight to the blind. Ophthalmology. 2015;122(8):1547-1554.
Bakthavatchalam M, Lai FHP, Rong SS, Ng DS, Brelen ME. Treatment of cystoid macular edema secondary to retinitis pigmentosa: A systematic review. Surv Ophthalmol. 2018;63(3):329-339.
Miraldi Utz V, Georges Coussa R, Antaki F, Traboulsi EI. Gene therapy for RPE65-related retinal disease. Ophthalmic Genet. 2018;39(6):671-677.
Nguyen XT, Moekotte L, Plomp AS, et al. Retinitis pigmentosa: current clinical management and emerging therapies. Int J Mol Sci. 2023;24(8):7481.
Comander J, Weigel DiFranco C, Sanderson K et al. Natural history of retinitis pigmentosa based on genotype, vitamin A/E supplementation, and an electroretinogram biomarker. JCI Insight. 2023;8(15):e167546.
Comprehensive Reviews
Bird AC. Retinal photoreceptor dystrophies, LI: Edward Jackson Memorial Lecture. Am J Ophthalmol. 1995;119(5):543-562.
Phelan JK, Bok D. A brief review of retinitis pigmentosa and the identified retinitis pigmentosa genes. Mol Vis. 2000;6:116-124.
Hartong DT, Berson EL, Dryja TP. Retinitis pigmentosa. Lancet. 2006;368(9549):1795-1809.
Updated January 2025