Taniguchi F, Suzuki Y, Shirato S, Ohta S
Eye Clinic, Ohmiya Red Cross Hospital, Saitama, Japan.
Jpn J Ophthalmol. 1999 Mar-Apr;43(2):80-4. doi: 10.1016/s0021-5155(98)00074-4.
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.
Complete ocular examinations were performed on the 13-year-old proband, her father, mother, and sister. DNA analysis was performed to detect the mutant gene.
The proband and her father were found to have a mutation of the MYOC/TIGR gene. Both patients carried a heterozygous mutation in the 1,109th nucleotide, which corresponds to the 370th amino acid residue of the MYOC/TIGR 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.
The phenotype of these patients with a mutation of the MYOC/TIGR gene agreed with reports of other patients with mutations at other loci in 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.
呈现两名因肌纤蛋白/小梁网诱导型糖皮质激素反应（MYOC/TIGR）基因突变导致原发性开角型青光眼（POAG）患者的表型。
对一名13岁的先证者及其父亲、母亲和妹妹进行了全面的眼部检查。进行DNA分析以检测突变基因。
发现先证者及其父亲存在MYOC/TIGR基因突变。两名患者均在第1109个核苷酸处携带杂合突变，该核苷酸对应于MYOC/TIGR基因的第370个氨基酸残基。两名患者的临床特征为：（1）早年发生POAG，（2）眼压高峰值高，（3）药物治疗反应差。
这些MYOC/TIGR基因突变患者的表型与该基因其他位点突变的其他患者的报道一致。MYOC/TIGR基因的发现不仅使青光眼的早期检测成为可能，也为研究青光眼的发病机制提供了新方向。
