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Divakar Gupta, Karine Duarte Bojikian, Mark A Slabaugh, Philip P Chen, Jay Neitz, Maureen Neitz; Examination of subjects with glaucoma who also have cone opsin gene mutations. Invest. Ophthalmol. Vis. Sci. 2014;55(13):3800.
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Glaucoma is an optic neuropathy due to retinal nerve fiber layer loss causing characteristic visual field deficits. Mutations in the long-wavelength (OPN1LW) and middle-wavelength (OPN1MW) cone photopigment genes have been implicated in a variety of eye disorders such as color blindness, cone dystrophy, and high grade myopia. Here we examined patient data for five individuals with glaucoma and one open angle glaucoma suspect identified with mutations in the OPN1LW or OPN1MW genes.
380 patients with glaucoma and 35 patients identified as open angle glaucoma suspects were recruited. DNA was isolated from saliva or blood samples and the OPN1LW and OPN1MW genes sequenced. Five patients were identified with mutations in the OPN1LW or OPN1MW gene, and chart data from these five subjects was examined.
Two females with normal tension glaucoma and one open angle glaucoma suspect (male) were found to have the C203R mutation in an OPN1MW gene. One of the females was found to also have a novel V104I mutation in an OPN1LW gene. One male with POAG was identified with the LVAVA mutation in his OPN1MW gene that has been reported to cause high grade myopia, and one male with POAG was found to have a V171L mutation in his OPN1LW gene. All patients had visual acuity greater than 20/25 in each eye except the patient LVAVA mutation who had acuity of 2/200 (right eye) and 20/200 (left eye). The patient with the LVAVA mutation also has advanced field loss on Humphrey visual fields and high grade myopia with findings typical for patients with Bornholm Eye Disease. The two subjects with normal tension glaucoma were maintained on two glaucoma medications each. Subjects with normal tension glaucoma or glaucoma suspect showed greater optic nerve cup to disc asymmetry than subjects with open angle glaucoma. The two subjects with open angle glaucoma had trabeculectomy or laser trabeculoplasty in each eye and were on four glaucoma medications each.
LVAVA mutation was associated with greater visual field loss. C203R mutation was associated with greater cup to disc asymmetry with variable visual field loss. Subjects with open angle glaucoma coexisting with cone opsin gene mutations (LVAVA, V171L) required greater treatment for management of their glaucoma. Our data provide the first description of cone opsin gene mutations in glaucoma.
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