Retrospective analysis of translaminar, demographic, and physiologic parameters in relation to papilledema severity.

OBJECTIVE: Some case reports suggest that the translaminar pressure difference is important in cases of papilledema. The purpose of this study was to determine ocular, physiologic, and demographic factors associated with papilledema severity. DESIGN: Retrospective, blinded study. PARTICIPANTS: Patients who had undergone a diagnostic lumbar puncture and had a diagnosis of papilledema in conjunction with idiopathic intracranial hypertension between 2004 and 2012 were included in the study. One-hundred and fifty-one patients were identified in initial screening. Sixty of 151 patients met all inclusion criteria, and 120 eyes were eligible for investigation. METHODS: A retrospective review of optic nerve photographs by 2 masked experts was used to grade papilledema severity using the Modified Frisén Scale (MFS). Patients with any systemic or neurologic disease that could affect cerebrospinal fluid pressure (CSFP) were excluded. Patients on acetazolamide were excluded. Assessments within 1 MFS grade were averaged and correlated to intraocular pressure, CSFP, translaminar pressure differential, MFS, age, weight, height, and systolic and diastolic blood pressure. RESULTS: In univariate and multivariate type 3 generalized estimating equation analyses, only age (Z = -2.70; p < 0.01) and sex (Z = 2.81; p < 0.0001) were significantly correlated with MFS. CONCLUSIONS: Papilledema severity decreased with advancing age and was higher for female sex. We found no association between severity of papilledema and CSFP, intraocular pressure, blood pressure, or any other physiologic parameter. Factors other than the translaminar pressure differential may be important in determining the severity of papilledema.

Distribution of optineurin sequence variations in an ethnically diverse population of low-tension glaucoma patients from the United States.

PURPOSE: Previous studies have suggested that Optineurin (OPTN) sequence variants contribute to low-tension glaucoma (LTG) in ethnically homogeneous populations. The purpose of this study is to evaluate the prevalence of OPTN sequence variants in an ethnically diverse population of LTG patients from the United States, and to describe the phenotype of patients with OPTN sequence variants preferentially found in LTG patients. METHODS: Genomic DNA purified from 67 LTG patients was screened for DNA sequence variants located in the exons and flanking introns of the OPTN gene using high-performance liquid chromatography analysis and direct genomic DNA sequencing. Eighty-six primary open-angle glaucoma probands and 100 control patients were also analyzed. RESULTS: Nine OPTN DNA sequence variants were identified in this patient population including the 2 previously identified heterozygous nonsynonymous single-nucleotide polymorphisms in exons 4 and 5. Four LTG patients with severe disease and positive family history of glaucoma, were found to have DNA sequence changes not found in primary open-angle glaucoma probands or control individuals including the previously reported E50K variation. CONCLUSIONS: The results of this study support the rare association of OPTN sequence variants with familial forms of LTG. The E50K mutation seems to be associated with a severe form of LTG, and although rare, the identification of this sequence variant in patients at risk may help direct appropriate therapy.