Clinical and genetic findings in Italian patients with sector retinitis pigmentosa.
Verdina T, Greenstein VC, Tsang SH, Murro V, Mucciolo DP, Passerini I, Mastropasqua R, Cavallini GM, Virgili G, Giansanti F, Sodi A.
Mol Vis. 2021 Feb 5;27:78-94. eCollection 2021.
Comprehensive analysis of two hotspot codons in the TUBB4B gene and associated phenotypes.
Bodenbender JP, Marino V, Philipp J, Tropitzsch A, Kernstock C, Stingl K, Kempf M, Haack TB, Zuleger T, Mazzola P, Kohl S, Weisschuh N, Dell'Orco D, Kühlewein L.
Sci Rep. 2024 May 8;14(1):10551. doi: 10.1038/s41598-024-61019-0.
Optic disc pit with sectorial retinitis pigmentosa.
Balikoglu-Yilmaz M, Taskapili M, Yilmaz T, Teke MY.
Case Rep Ophthalmol Med. 2013;2013:156023. doi: 10.1155/2013/156023. Epub 2013 May 23.
Rhodopsin p.N78I dominant mutation causing sectorial retinitis pigmentosa in a pedigree with intrafamilial clinical heterogeneity.
Rivera-De la Parra D, Cabral-Macias J, Matias-Florentino M, Rodriguez-Ruiz G, Robredo V, Zenteno JC.
Gene. 2013 Apr 25;519(1):173-6. doi: 10.1016/j.gene.2013.01.048. Epub 2013 Feb 9.
Autosomal dominantly inherited retinitis pigmentosa. Visual acuity loss by subtype.
Farber MD, Fishman GA, Weiss RA.
Arch Ophthalmol. 1985 Apr;103(4):524-8. doi: 10.1001/archopht.1985.01050040066019.
Visual function in retinitis pigmentosa related to a codon 15 rhodopsin gene mutation.
Yoshii M, Murakami A, Akeo K, Fujiki K, Saga M, Mizukawa A, Itoh J, Okisaka S, Yanashima K, Hotta Y, Kanai A, Oguchi Y.
Ophthalmic Res. 1998;30(1):1-10. doi: 10.1159/000055448.
Differential light-induced responses in sectorial inherited retinal degeneration.
Ramon E, Cordomí A, Aguilà M, Srinivasan S, Dong X, Moore AT, Webster AR, Cheetham ME, Garriga P.
J Biol Chem. 2014 Dec 26;289(52):35918-28. doi: 10.1074/jbc.M114.609958. Epub 2014 Oct 30.
A new codon 15 rhodopsin gene mutation in autosomal dominant retinitis pigmentosa is associated with sectorial disease.
Sullivan LJ, Makris GS, Dickinson P, Mulhall LE, Forrest S, Cotton RG, Loughnan MS.
Arch Ophthalmol. 1993 Nov;111(11):1512-7. doi: 10.1001/archopht.1993.01090110078029.
A completed screen for mutations of the rhodopsin gene in a panel of patients with autosomal dominant retinitis pigmentosa.
Inglehearn CF, Keen TJ, Bashir R, Jay M, Fitzke F, Bird AC, Crombie A, Bhattacharya S.
Hum Mol Genet. 1992 Apr;1(1):41-5. doi: 10.1093/hmg/1.1.41.
A novel homozygous Gly107Arg mutation in the RDH5 gene in a Japanese patient with fundus albipunctatus with sectorial retinitis pigmentosa.
Sato M, Oshika T, Kaji Y, Nose H.
Ophthalmic Res. 2004 Jan-Feb;36(1):43-50. doi: 10.1159/000076109.
