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Titolo:
Clinical phenotype of a Japanese family with primary open angle glaucoma caused by Pro370Leu mutation in the MYOC/TIGR gene
Autore:
Taniguchi, F; Suzuki, Y; Shirato, S; Ohta, S;
Indirizzi:
Ohmiya Red Cross Hosp, Eye Clin, Yono, Saitama 338, Japan Ohmiya Red CrossHosp Yono Saitama Japan 338 in, Yono, Saitama 338, Japan Nippon Med Sch, Dept Ophthalmol, Tokyo 113, Japan Nippon Med Sch Tokyo Japan 113 ed Sch, Dept Ophthalmol, Tokyo 113, Japan Univ Tokyo, Sch Med, Dept Ophthalmol, Tokyo 113, Japan Univ Tokyo Tokyo Japan 113 o, Sch Med, Dept Ophthalmol, Tokyo 113, Japan Nippon Med Sch, Inst Gerontol, Div Biochem, Kanagawa, Japan Nippon Med Sch Kanagawa Japan st Gerontol, Div Biochem, Kanagawa, Japan
Titolo Testata:
JAPANESE JOURNAL OF OPHTHALMOLOGY
fascicolo: 2, volume: 43, anno: 1999,
pagine: 80 - 84
SICI:
0021-5155(199903/04)43:2<80:CPOAJF>2.0.ZU;2-V
Fonte:
ISI
Lingua:
ENG
Soggetto:
DOMINANT JUVENILE GLAUCOMA; LINKAGE; CHROMOSOME;
Keywords:
glaucoma genetics; juvenile-onset primary open-angle glaucoma; myocilin/trabecular meshwork inducible glucocorticoid response gene;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Citazioni:
17
Recensione:
Indirizzi per estratti:
Indirizzo: Taniguchi, F Ohmiyaaned Cross Hosp, Eye Clin, 8-3-33 Kami Ochiai, Yono, Saitama 338, Jap Ohmiya Red Cross Hosp 8-3-33 Kami Ochiai Yono Saitama Japan 338
Citazione:
F. Taniguchi et al., "Clinical phenotype of a Japanese family with primary open angle glaucoma caused by Pro370Leu mutation in the MYOC/TIGR gene", JPN J OPHTH, 43(2), 1999, pp. 80-84

Abstract

Purpose: To present the phenotype of two patients with primary open angle glaucoma (POAG) caused by a mutation of the myocilin/trabecular meshwork-inducible glucocorticoid response (MYOC/TIGR) gene. Methods: Complete ocular examinations were performed on the 13-year-old proband, her father, mother, and sister. DNA analysis was performed to detectthe mutant gene. Results: The proband and her father wore found to have a mutation of the MYOC/TIGR gene. Both patients carried a heterozygous mutation in the 1,109thnucleotide, which corresponds to the 370th amino acid residue of the MYOC/TICR gene. The clinical characteristics of both patients were: (1) development of POAG at an early age, (2) high peaks of intraocular pressure, and (3) poor response to medical treatment. Conclusions: The phenotype of these patients with a mutation of the MYOC/TIGR gene agreed with reports of other patients with mutations at other lociin this gene. The discovery of the MYOC/TIGR gene not only makes early detection of glaucoma possible, but also presents a new direction for investigating the pathogenesis of glaucoma. (C) 1999 Japanese Ophthalmological Society.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 09/07/20 alle ore 19:54:18