A GLClA Gene Gln368Stop Mutation in a Patient with Normal-Tension Open-Angle Glaucoma

Myocilin Expression in the Astrocytes of the Optic Nerve Head

“…Mutations in the MYOC/TIGR gene were also found even in the late onset POAG patients (17-19, 21, 24). Recently, we and other groups reported the MYOC/ TIGR mutations in the patients with normal tension glaucoma who showed no elevation of intraocular pressure (25,26). Moreover, myocilin was localized with the immunofluorescence method in almost every human ocular tissue containing optic nerve axon and lamina cribrosa astrocytes in the paraffin sections (27).…”

Inefficient Processing of an Olfactomedin-Deficient Myocilin Mutant: Potential Physiological Relevance to Glaucoma

“…However, its role in the maintenance of normal outflow facility and/or the reason as to why mutated forms of the protein might cause an increased intraocular pressure have not yet been determined. The recent identification of normal intraocular tension individuals with mutations on myocilin (15,16) suggests a more complex involvement of this protein in the pathology of glaucoma and points to the potential relevance of other genetic or environmental factors in the development of the disease.…”

Variants of the Myocilin Gene in Japanese Patients with Normal-Tension Glaucoma

“…Thus, the question arose whether mutations in the MYOC gene were also associated with NTG. The Q368stop [12] and T293K [22] variant have been reported in patients with NTG. On the other hand, Clark et al [14] suggested that coding sequence variations in myocilin were not commonly involved in the NTG phenotype.…”

“…according to the following criteria: presence of typical optic disk damage with glaucomatous cupping and loss of the neuroretinal rim; reproducible visual field defect compatible with glaucomatous cupping; untreated peak IOP that was ^21 mm Hg at all times, including both the 5 baseline measurements and the diurnal testing (every 3 h from 6.00 to 24.00 h); open drainage angles on gonioscopy, and the absence of any secondary cause for glaucomatous optic neuropathy, such as a previously raised IOP following trauma, or a period of steroid administration or uveitis. The demographic features of 80 NTG patients were: 44 men and 36 women, mean age at the initial diagnosis was 54.0 B 12.8 years, mean highest diurnal IOP was 16.3 B 2.8 mm Hg (range [11][12][13][14][15][16][17][18][19][20][21], and the mean values of the mean deviation (MD) and corrected pattern standard deviation (CPSD) on Humphrey perimetry (program 30-2) were -7.59 B 6.98 dB and -6.52 B 4.87 dB, respectively.…”

“…The third exon of the MYOC gene encodes a peptide sequence that is homologous to olfactomedin, and the vast majority of MYOC mutations in patients with POAG have been identified in the olfactomedin homology domain [6][7][8][9][10]. On the other hand, some mutations in the MYOC gene have been reported to be associated with NTG patients [9,12,13], although Clark et al [14] have suggested that coding sequence variations in the MYOC gene were not commonly involved in NTG.…”