[Clinical phenotype of a Japanese family with primary open-angle glaucoma caused by a Ala 363 Thr mutation in the MYOC gene].
BACKGROUND
Myocilin is a gene that causes primary open-angle glaucoma (POAG). We report a family whose members had an Ala 363 Thr mutation in the myocilin gene. We present the clinical phenotype of this family.


METHODS
The proband was a 57-year-old man diagnosed with POAG. His younger sister (50 years old) was also diagnosed with POAG. Visual field impairment did not worsen and ocular pressure decreased with eyedrop treatment. Although two of their children in their 30s had ocular hypertension, they did not have any sign of glaucomatous optic neuropathy. Genetic analysis revealed that all four family members had an Ala 363 Thr mutation in myocilin gene.


CONCLUSIONS
Ala 363 Thr mutation was considered to be the cause of open-angle glaucoma. In this family, age at onset was comparatively high The two patients in their 30s had high intraocular pressure but no loss in visual acuity. The family members who had POAG and those who did not have POAG were not different from each other in the results of standard ocular examinations, only in age. Patients with this mutation will develop high intraocular pressure after 30 years of age and glaucomatous neuropathy after 50 years of age. When this gene mutation is detected in juvenile patients, careful follow-up and early therapy are necessary.
Ohyama
Akihiro
A
Department of Ophthalmology, Juntendo University School of Medicine, Tokyo, Japan.
Fujimaki
Takuro
T
Kimura
Tairoh
T
Kawabata
Kiho
K
Fujiki
Keiko
K
Ishikawa
Karin
K
Mashima
Yukihiko
Y
Murakami
Akira
A
D000328:Adult; D017668:Age of Onset; D000368:Aged; D003598:Cytoskeletal Proteins / Q000235:genetics*; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D005902:Glaucoma, Open-Angle / Q000235:genetics*; D006023:Glycoproteins / Q000235:genetics*; D006801:Humans; D007564:Japan; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010641:Phenotype; D000099179:Myocilin
D003598:Cytoskeletal Proteins; D005136:Eye Proteins; D006023:Glycoproteins; D000099179:Myocilin