Verbakel SK, van Huet RAC, Boon CJF, den Hollander AI, Collin RWJ, Klaver CCW, Hoyng CB, Roepman R, Klevering BJ (2018) Non-syndromic retinitis pigmentosa. Prog Retin Eye Res 66:157–186. https://doi.org/10.1016/j.preteyeres.2018.03.005
Xu M, Zhai Y, MacDonald IM (2020) Visual field progression in retinitis pigmentosa. Invest Ophthalmol Vis Sci 61(6):56. https://doi.org/10.1167/iovs.61.6.56
Article PubMed PubMed Central Google Scholar
Fahim AT, Daiger SP, Weleber RG (2023) Nonsyndromic retinitis pigmentosa overview. Genereviews. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1417/
De Sousa DM, Hernan I, Pascual B, Borras E, Mañé B, Gamundi MJ, Carballo M (2013) Detection of novel mutations that cause autosomal dominant retinitis pigmentosa in candidate genes by long-range PCR amplification and next-generation sequencing. Mol Vis 19:654–664
Donato L, Scimone C, Alibrandi S, Nicocia G, Rinaldi C, Sidoti A, D’Angelo R (2020) Discovery of GLO1 new related genes and pathways by RNA-seq on A2E-stressed retinal epithelial cells could improve knowledge on retinitis pigmentosa. Antioxidants 9(5):416. https://doi.org/10.3390/antiox9050416
Article CAS PubMed PubMed Central Google Scholar
Quinodoz M, Rodenburg K, Cvackova Z, Kaminska K, de Bruijn SE et al (2025) De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa. medRxiv (preprint). https://doi.org/10.1101/2025.01.06.24317169
Kong L, Chu G, Ma W, Liang J, Liu D, Liu Q, Wei X, Jia S, Gu H, He Y, Luo W, Cao S, Zhou X, He R (2023) Mutations in VWA8 cause autosomal-dominant retinitis pigmentosa via aberrant mitophagy activation. J Med Genet 60(10):939–950. https://doi.org/10.1136/jmg-2022-108888
Article CAS PubMed Google Scholar
Seo GH, Kim T, Choi IH, Park JY, Lee J, Kim S, Won DG, Oh A, Lee Y, Choi J, Lee H, Kang HG, Cho HY, Cho MH, Kim YJ, Lee H, Kang HG, RJ D, Keum C, Lee BL (2020) Diagnostic yield and clinical utility of whole exome sequencing using an automated variant prioritization system EVIDENCE. Clin Genet 98(6):562–570. https://doi.org/10.1111/cge.13848
Article CAS PubMed PubMed Central Google Scholar
Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm ACMGL, Committee QA (2015) Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American college of medical genetics and genomics and the association for molecular pathology. Genet Med 17(5):405–424. https://doi.org/10.1038/gim.2015.30
Article PubMed PubMed Central Google Scholar
Grewe BS, Richmond JE, Featherstone DE (2018) The spatial and developmental expression of mouse vwa8 (von willebrand domain-containing potein 8). Gene Expr Patterns 29:39–46
Chang MY, Pineles SL (2016) Optic disk drusen in children. Sur Ophthalmol 61(6):745–758. https://doi.org/10.1016/j.survophthal.2016.03.007
Auw-Haedrich C, Staubach F, Witschel H (2002) Optic disk drusen. Surv Ophthalmol 47(6):515–532. https://doi.org/10.1016/s0039-6257(02)00357-0
Serpen JY, Prasov L, Zein WM, Cukras CA, Cunningham D, Murphy EC, Turriff A, Brooks BP, Huryn LA (2020) Clinical features of optic disc drusen in an ophthalmic genetics cohort. J Ophthalmol 2020:5082706. https://doi.org/10.1155/2020/5082706
Article PubMed PubMed Central Google Scholar
Antcliff RJ, Spalton DJ (1999) Are optic disc drusen inherited? Opthalmology 106(7):1278–1281. https://doi.org/10.1016/S0161-6420(99)00708-3
Steensberg A, Schmidt DC, Malmquist L, Kessel L, Bertelsen M, Gronskov K, Hamman S (2024) Optic disc drusen prevalence in patients with retinitis pigmentosa: a cross-sectional study. J Neuro-Ophthalmol 44(4):483–487. https://doi.org/10.1097/WNO.0000000000002038
Serpen JY, Prasov L, Zein WM, Cukras CA, Cunningham D, Murphy EC, Turriff A, Brooks BP, Huryn LA (2020) Clinical features of optic disc drusen in an ophthalmic genetics cohort. J Ophthalmol 6(2020):5082706. https://doi.org/10.1155/2020/5082706.PMID:33083048;PMCID:PMC7557906
Edwards A, Grover S, Fishman GA (1996) Frequency of photographically apparent optic disc and parapapillary nerve fiber layer drusen in Usher syndrome. Retina 16(5):388–392. https://doi.org/10.1097/00006982-199616050-00004
Article CAS PubMed Google Scholar
Grover S, Fishman A, Brown J Jr (1997) Frequency of optic disc or parapapillary nerve fiber layer drusen in retinitis pigmentosa. Ophthalmology 104(2):295–298. https://doi.org/10.1016/s0161-6420(97)30321-2
Article CAS PubMed Google Scholar
Russel N, Fraser C, Grigg J (2022) Optic disc drusen prevalence in the retinitis pigmentosa population. Eye 36(11):2213
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