Wallace DC, Singh G, Lott MT, Hodge JA, Schurr TG, Lezza AM, et al. Mitochondrial DNA mutation associated with Leber’s hereditary optic neuropathy. Science. 1988;242:1427–30.
Article PubMed CAS Google Scholar
Yoneda M, Tsuji S, Yamauchi T, Inuzuka T, Miyatake T, Horai S, et al. Mitochondrial DNA mutation in family with Leber’s hereditary optic neuropathy. Lancet. 1989;1:1076–7.
Article PubMed CAS Google Scholar
Hotta Y, Hayakawa M, Saito K, Kanai A, Nakajima A, Fujiki K. Diagnosis of Leber’s optic neuropathy by means of polymerase chain reaction amplification. Am J Ophthalmol. 1989;108:601–2.
Article PubMed CAS Google Scholar
Hotta Y, Hayakawa M, Fujiki K, Shinohara K, Sado K, Kanai A, Yanashima K. An atypical Leber’s hereditary optic neuropathy with the 11778 mutation. Br J Ophthalmol. 1993;77(11):748.
Article PubMed PubMed Central CAS Google Scholar
Nakamura M, Ara F, Yamada M, Hotta Y, Hayakawa M, Fujiki K, et al. High frequency of mitochondrial ND4 gene mutation in Japanese pedigrees with Leber hereditary optic neuropathy. Jpn J Ophthalmol. 1992;36:56–61.
Newman NJ, Lott MT, Wallace DC. The clinical characteristics of pedigrees of Leber’s hereditary optic neuropathy with the 11778 mutation. Am J Ophthalmol. 1991;111:750–62.
Article PubMed CAS Google Scholar
Hotta Y, Fujiki K, Hayakawa M, Nakajima A, Kanai A, Mashima Y, et al. Clinical features of Japanese Leber’s hereditary optic neuropathy with 11778 mutation of mitochondrial DNA. Jpn J Ophthalmol. 1995;39:96–108.
Munier FL, Korvatska E, Djemaï A, Le Paslier D, Zografos L, Pescia G, et al. Kerato-epithelin mutations in four 5q31-linked corneal dystrophies. Nat Genet. 1997;15:247–51.
Article PubMed CAS Google Scholar
Hotta Y. Inherited ocular diseases. Nippon Ganka Gakkai Zasshi. 2006;110:545–59.
Fujiki K, Hotta Y, Nakayasu K, Kanai A. Homozygotic patient with betaig-h3 gene mutation in granular dystrophy. Cornea. 1998;17:288–92.
Article PubMed CAS Google Scholar
Fujiki K, Hotta Y, Nakayasu K, Yokoyama T, Takano T, Yamaguchi T, et al. A new L527R mutation of the βIGH3 gene in patients with lattice corneal dystrophy with deep stromal opacities. Hum Genet. 1998;103:286–9.
Article PubMed CAS Google Scholar
Hotta Y, Fujiki K, Ono K, Fujimaki T, Nakayasu K, Yamaguchi T, et al. Arg124Cys mutation of the βig-h3 gene in a Japanese family with lattice corneal dystrophy type I. Jpn J Ophthalmol. 1998;42:450–5.
Article PubMed CAS Google Scholar
Endo S, Nguyen TH, Fujiki K, Hotta Y, Nakayasu K, Yamaguchi T, et al. A. Leu518Pro mutation of the βig-h3 gene causes lattice corneal dystrophy type I. Am J Ophthalmol. 1999;128:104–6.
Article PubMed CAS Google Scholar
Hirano K, Hotta Y, Fujiki K, Kanai A. Corneal amyloidosis caused by Leu518Pro mutation of βig-h3 gene. Br J Ophthalmol. 2000;84:583–5.
Article PubMed PubMed Central CAS Google Scholar
Ha NT, Fujiki K, Hotta Y, Nakayasu K, Kanai A. Q118X mutation of M1S1 gene caused gelatinous drop-like corneal dystrophy: the P501T of BIGH3 gene found in a family with gelatinous drop-like corneal dystrophy. Am J Ophthalmol. 2000;130:119–20.
Article PubMed CAS Google Scholar
Fujiki K, Hotta Y, Nakayasu K, Yamaguchi T, Kato T, Uesugi Y, et al. Six different mutations of TGFBI (betaig-h3, keratoepithelin) gene found in Japanese corneal dystrophies. Cornea. 2000;19:842–5.
Article PubMed CAS Google Scholar
Hirano K, Hotta Y, Nakamura M, Fujiki K, Kanai A, Yamamoto N. Late-onset form of lattice corneal dystrophy caused by leu527Arg mutation of the TGFBI gene. Cornea. 2001;20:525–9.
Article PubMed CAS Google Scholar
Hirano K, Kojima T, Nakamura M, Hotta Y. Triple anterior chamber after full-thickness lamellar keratoplasty for lattice corneal dystrophy. Cornea. 2001;20:530–3.
Article PubMed CAS Google Scholar
Yasumi K, Nojima K, Hosono K, Hotta Y. A case of lattice corneal dystrophy with p. (L527R) mutation in the TGFBI gene. Rinsho Ganka. 2020;74:1120–5.
Yamada N. The genetic diagnosis of the corneal dystrophies. Rinsho Ganka. 2017;71:164–74.
Hotta Y. Toward genomic medicine: research and clinical application in ocular genetics. Nippon Ganka Gakkai Zasshi. 2021;127:297–328.
Yamamoto H, Simon A, Eriksson U, Harris E, Berson EL, Dryja TP. Mutations in the gene encoding 11-cis retinol dehydrogenase cause delayed dark adaptation and fundus albipunctatus. Nat Genet. 1999;22:188–91.
Article PubMed CAS Google Scholar
Nakamura M, Hotta Y, Tanikawa A, Terasaki H, Miyake Y. A high association with cone dystrophy in Fundus albipunctatus caused by mutations of the RDH5 gene. Invest Ophthalmol Vis Sci. 2000;41:3925–32.
Hotta Y, Nakamura M, Okamoto Y, Nomura R, Terasaki H, Miyake Y. Different mutation of the XLRS1 gene causes juvenile retinoschisis with retinal white flecks. Br J Ophthalmol. 2001;85:238–9.
Article PubMed PubMed Central CAS Google Scholar
Schatz P, Preising M, Lorenz B, Sander B, Larsen M, Rosenberg T. Fundus albipunctatus associated with compound heterozygous mutations in RPE65. Ophthalmology. 2011;118:888–94.
Yang G, Liu Z, Xie S, Li C, Lv L, Zhang M, Zhao J. Genetic and phenotypic characteristics of four Chinese families with fundus albipunctatus. Sci Rep. 2017;7:46285.
Article PubMed PubMed Central CAS Google Scholar
Katagiri S, Hosono K, Hayashi T, Kurata K, Mizobuchi K, Matsuura T, et al. Early onset flecked retinal dystrophy associated with new compound heterozygous RPE65 variants. Mol Vis. 2018;24:286–96.
PubMed PubMed Central CAS Google Scholar
Nojima K, Hosono K, Zhao Y, Toshiba T, Hikoya A, Asai T, et al. Clinical features of a Japanese case with Bothnia dystrophy. Ophthalmic Genet. 2012;33:83–8.
Article PubMed CAS Google Scholar
Katsanis N, Shroyer NF, Lewis RA, Cavender JC, Al-Rajhi AA, Jabak M, et al. Fundus albipunctatus and retinitis punctata albescens in a pedigree with an R150Q mutation in RLBP1. Clin Genet. 2001;59:424–9.
Article PubMed CAS Google Scholar
Chizzolini M, Galan A, Milan E, Sebastiani A, Costagliola C, Parmeggiani F. Good epidemiologic practice in retinitis pigmentosa: from phenotyping to biobanking. Curr Genom. 2011;12:260–6.
Dryja TP, McGee TL, Hahn LB, Cowley GS, Olsson JE, Reichel E, et al. Mutations within the rhodopsin gene in patients with autosomal dominant retinitis pigmentosa. N Engl J Med. 1990;323:1302–7.
Article PubMed CAS Google Scholar
Hotta Y, Shiono T, Hayakawa M, Hashimoto T, Kanai A, Nakajima A, et al. Molecular biological study of the rhodopsin gene in Japanese patients with autosomal dominant retinitis pigmentosa. Nippon Ganka Gakkai Zasshi. 1992;96:237–42.
Hayakawa M, Hotta Y, Imai Y, Fujiki K, Nakamura A, Yanashima K, et al. Clinical features of autosomal dominant retinitis pigmentosa with rhodopsin gene codon 17 mutation and retinal neovascularization in a Japanese patient. Am J Ophthalmol. 1993;115:168–73.
Comments (0)