Clinical features and course of patients with glaucoma with the E50K mutation in the optineurin gene.

摘要: PURPOSE. To investigate the clinical features of subjects with glaucoma E50K mutation in optineurin (OPTN) gene and to compare onset, severity, course these patients a control group without this mutation. METHODS. The phenotype well-characterized from Moorfields Eye Hospital, London, who had been identified as carrying OPTN was examined. A wide range structural, psychophysical, demographic factors were then compared those RESULTS. Eleven (nine two families sporadic cases) studied. All 11 normal tension (NTG), presenting highest IOP 15.3 3.0 16.5 2.5 mm Hg (SD) on diurnal testing. Compared 87 NTG did not have mutation, presented at younger age (40.8 15 years, P 0.0001) more advanced optic disc cupping (mean cup-disc ratio SD 0.86 0.1, 0.001) smaller neuroretinal rim area (SD; 0.5 0.28 2 , diagnosis. rate filtration surgery performed for progressive visual field loss 72.7% 25.3%, respectively (P 0.003), all found progressing fields. In addition, seven mutation-carrying individuals (age range, 23‐58 years) discs fields and, yet, no signs glaucoma. CONCLUSIONS. study, that appeared be severe than findings emphasize importance early detection treatment such individuals, minimize loss. (Invest Ophthalmol Vis Sci. 2005;46:2816‐2822) DOI:10.1167/iovs.041133