Clinical phenotype of a Japanese family with primary open angle glaucoma caused by a Pro370Leu mutation in the MYOC/TIGR gene.
OBJECTIVE
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 detect the mutant gene.


RESULTS
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.


CONCLUSIONS
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.
Taniguchi
F
F
Eye Clinic, Ohmiya Red Cross Hospital, Saitama, Japan.
Suzuki
Y
Y
Shirato
S
S
Ohta
S
S
D000293:Adolescent; D000328:Adult; D003598:Cytoskeletal Proteins; D004247:DNA / Q000032:analysis; D017931:DNA Primers / Q000737:chemistry; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D005902:Glaucoma, Open-Angle / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D006023:Glycoproteins / Q000235:genetics*; D006801:Humans; D007429:Intraocular Pressure / Q000235:genetics; D007564:Japan; D008297:Male; D010641:Phenotype; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D014129:Trabecular Meshwork / Q000473:pathology; D014794:Visual Fields; D000099179:Myocilin
D003598:Cytoskeletal Proteins; D004247:DNA; D017931:DNA Primers; D005136:Eye Proteins; D006023:Glycoproteins; D000099179:Myocilin