OBJECTIVES: To investigate the prevalence of myocilin (MYOC) mutations in Italian families with glaucoma and to determine the relationship of these mutations to primary open-angle glaucoma (POAG), juvenile open-angle glaucoma (JOAG), and pigmentary dispersion glaucoma. METHODS: Twenty-six patients with POAG were selected based on a positive family history of glaucoma. All patients and 210 relatives had an accurate clinical characterization. MAIN OUTCOME MEASURE: Each index patient was screened by single-stranded conformational polymorphism analysis for mutations in the MYOC gene. RESULTS: A MYOC gene mutation was found in 2 families. In one family, a previously reported p.K423E mutation was transmitted from the index patient with POAG to the 2 sons with JOAG. In the second family, a p.C25R change, affecting the signal peptide, was transmitted from the index patient with POAG to the son with JOAG, but not to the son with pigmentary dispersion glaucoma. CONCLUSIONS: Clinical characterization of 2 families with MYOC gene mutations indicates that POAG and JOAG are the 2 sides of a continuum phenotypical spectrum due to a common molecular defect. On the other hand, our results confirm the different origin of pigmentary dispersion glaucoma. CLINICAL RELEVANCE: Because MYOC gene mutations may be responsible for a fraction (2 [8%] of 26) of families with POAG/JOAG, a molecular genetic diagnosis should be included in the management of patients with glaucoma.
OBJECTIVES: To investigate the prevalence of myocilin (MYOC) mutations in Italian families with glaucoma and to determine the relationship of these mutations to primary open-angle glaucoma (POAG), juvenile open-angle glaucoma (JOAG), and pigmentary dispersion glaucoma. METHODS: Twenty-six patients with POAG were selected based on a positive family history of glaucoma. All patients and 210 relatives had an accurate clinical characterization. MAIN OUTCOME MEASURE: Each index patient was screened by single-stranded conformational polymorphism analysis for mutations in the MYOC gene. RESULTS: A MYOC gene mutation was found in 2 families. In one family, a previously reported p.K423E mutation was transmitted from the index patient with POAG to the 2 sons with JOAG. In the second family, a p.C25R change, affecting the signal peptide, was transmitted from the index patient with POAG to the son with JOAG, but not to the son with pigmentary dispersion glaucoma. CONCLUSIONS: Clinical characterization of 2 families with MYOC gene mutations indicates that POAG and JOAG are the 2 sides of a continuum phenotypical spectrum due to a common molecular defect. On the other hand, our results confirm the different origin of pigmentary dispersion glaucoma. CLINICAL RELEVANCE: Because MYOC gene mutations may be responsible for a fraction (2 [8%] of 26) of families with POAG/JOAG, a molecular genetic diagnosis should be included in the management of patients with glaucoma.
Authors: Andrew R Stothert; Amirthaa Suntharalingam; Dustin J E Huard; Sarah N Fontaine; Vincent M Crowley; Sanket Mishra; Brian S J Blagg; Raquel L Lieberman; Chad A Dickey Journal: Hum Mol Genet Date: 2014-07-15 Impact factor: 6.150
Authors: Carly J van der Heide; Wallace L M Alward; Miles Flamme-Wiese; Megan Riker; Nasreen A Syed; Michael G Anderson; Keith Carter; Markus H Kuehn; Edwin M Stone; Robert F Mullins; John H Fingert Journal: Ophthalmol Glaucoma Date: 2018-08-17
Authors: J L Wiggs; S Lynch; G Ynagi; M Maselli; J Auguste; E A Del Bono; L M Olson; J L Haines Journal: Am J Hum Genet Date: 2004-04-23 Impact factor: 11.025