[Gene screening as the forewarning measure to predict glaucoma].
OBJECTIVE
To investigate the effect of gene screening on forewarning and monitoring of familial open-angle glaucoma pedigree.


METHODS
Comprehensive ophthalmic examinations were performed in all available family members. The genomic DNA was extracted from peripheral blood. The myocilin gene was amplified and screened for mutations using direct sequencing. All family members were followed up.


RESULTS
Among 12 family members, 5 individuals carry a C to T transition in exon 3 resulting in the substitution of proline to leucine (Pro370Leu), and the other 7 individuals did not carry this mutation. Ophthalmic examinations did not show any abnormality in the optic disc, the thickness of RNFL, and visual field parameters in mutation-carriers. During the follow-up, all carriers were diagnosed as open-angle glaucoma. The mean time of presentation of the defect of visual field was 21.6 months and 14.4 months after the changes in RNFL thickness.


CONCLUSIONS
Genetic diagnosis was proven to be a method with high specificity and sensitivity; and can be used for presymptom diagnosis and forewarning in familial open-angle glaucoma pedigree.
Wei
Yan-Tao
YT
Zhongshan Ophthalmic Center, Sun Yat-Sen University, Guangzhou 510060, China.
Zhuo
Ye-Hong
YH
Li
Yi-Qing
YQ
Chai
Fang
F
Lin
Ming-Kai
MK
Ling
Yun-Lan
YL
Ge
Jian
J
D000293:Adolescent; D002648:Child; D003598:Cytoskeletal Proteins / Q000235:genetics*; D004247:DNA; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D005820:Genetic Testing; D005902:Glaucoma, Open-Angle / Q000175:diagnosis* / Q000235:genetics*; D006023:Glycoproteins / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D012680:Sensitivity and Specificity; D000099179:Myocilin
D003598:Cytoskeletal Proteins; D004247:DNA; D005136:Eye Proteins; D006023:Glycoproteins; D000099179:Myocilin