Results of a patient-directed survey on frequency of family history of glaucoma in 2170 patients

Purpose.: To evaluate in different types of glaucoma frequency of family history of glaucoma (FHG), age at diagnosis, glaucoma risk in relatives, and acceptance rate of genetic glaucoma tests. To assess stage of visual field loss (VFL) in relation to FHG. Methods.: Using standardized questions whether an ophthalmologist had found or excluded glaucoma or ocular hypertension (OH), 2170 patients with glaucoma or OH interviewed all their first and second degree relatives. One thousand three hundred thirty-eight patients had POAG, 233 primary angle closure glaucoma (PACG), 148 OH, 153 normal tension glaucoma (NTG), 50 pigmentary glaucoma (PG), and 66 pseudoexfoliation glaucoma (PEX). Results.: Frequency of FHG was 40% in POAG, without significant differences compared with NTG (P = 0.08), OH (P = 0.5), PACG (P = 0.4), and PG (P = 0.6). There were significant differences in age at diagnosis between the glaucomas (smallest between group P < 0.0001). Patients with FHG were significantly younger at diagnosis than patients without FHG in all types of glaucoma (all P values ≤ 0.03), except NTG and PEX. Patients' siblings and mothers had the highest detection probability for glaucoma in POAG and OH. There was no significant relation between stage of VFL and FHG in POAG (P = 0.6). Sixty-eight percent of patients would participate in genetic glaucoma tests. Conclusions.: There is a similarly high genetic disposition in all types of glaucoma. Disease risk was especially high in mothers and siblings. In patients with FHG, knowledge of genetic disposition of the glaucomas may have led to earlier diagnosis. This highlights the need for glaucoma awareness campaigns

Evaluation of nine candidate genes in patients with normal tension glaucoma: a case control study

<p>Abstract</p> <p>Background</p> <p>Normal tension glaucoma is a major subtype of glaucoma, associated with intraocular pressures that are within the statistically normal range of the population. Monogenic forms following classical inheritance patterns are rare in this glaucoma subtype. Instead, multigenic inheritance is proposed for the majority of cases. The present study tested common sequence variants in candidate genes for association with normal tension glaucoma in the German population.</p> <p>Methods</p> <p>Ninety-eight SNPs were selected to tag the common genetic variation in nine genes, namely OPTN (optineurin), RDX (radixin), SNX16 (sorting nexin 16), OPA1 (optic atrophy 1), MFN1 (mitofusin 1), MFN2 (mitofusin 2), PARL (presenilin associated, rhomboid-like), SOD2 (superoxide dismutase 2, mitochondrial) and CYP1B1 (cytochrome P450, family 1, subfamily B, polypeptide 1). These SNPs were genotyped in 285 cases and 282 fully evaluated matched controls. Statistical analyses comprised single polymorphism association as well as haplogroup based association testing.</p> <p>Results</p> <p>Results suggested that genetic variation in five of the candidate genes (RDX, SNX16, OPA1, SOD2 and CYP1B1) is unlikely to confer major risk to develop normal tension glaucoma in the German population. In contrast, we observed a trend towards association of single SNPs in OPTN, MFN1, MFN2 and PARL. The SNPs of OPTN, MFN2 and PARL were further analysed by multimarker haplotype-based association testing. We identified a risk haplotype being more frequent in patients and a vice versa situation for the complementary protective haplotype in each of the three genes.</p> <p>Conclusion</p> <p>Common variants of OPTN, PARL, MFN1 and MFN2 should be analysed in other cohorts to confirm their involvement in normal tension glaucoma.</p

Common genetic determinants of intraocular pressure and primary open-angle Glaucoma

10.1371/journal.pgen.1002611PLoS Genetics85

Effect of Overground Training Augmented by Mental Practice on Gait Velocity in Chronic, Incomplete Spinal Cord Injury

OBJECTIVE: To compare efficacy of a regimen combining mental practice (MP) with overground training with the efficacy of a regimen comprised of overground training only on gait velocity and lower extremity motor outcomes in individuals with chronic (> 12 months post injury), incomplete, spinal cord injury (SCI). DESIGN: Randomized controlled, single blinded, study SETTING: Outpatient rehabilitation laboratories located in the Midwestern and Western United States PARTICIPANTS: 18 subjects with chronic, incomplete SCI INTERVENTIONS: Subjects were randomly assigned to receive: (a) Overground Training only (OT), occurring 3 days/week for 8 weeks; or (b) OT augmented by MP (MP + OT), during which randomly assigned subjects listened to a mental practice audio recording directly following OT sessions. MAIN OUTCOME MEASURES: Subjects were administered a test of gait velocity as well as the Tinetti Performance Oriented Mobility Assessment (POMA), Spinal Cord Injury Independence Measure (SCIM), and Satisfaction with Life Scale (SWLS) on 2 occasions before intervention, 1 week after intervention, and 12 weeks after intervention. RESULTS: A significant increase in gait velocity was exhibited across subjects at both 1 week post-therapy (p=0.0046) and at 12 weeks post-therapy (p=0.0056). However, no differences were seen in intervention response at either 1 or 12 weeks post intervention among subjects in the MP + OT versus the OT groups. CONCLUSION: Overground training was associated with significant gains in gait velocity, and that these gains were not augmented by further addition of mental practice

Migraine and Vasospasm in Glaucoma: Age-Related Evaluation of 2027 Patients With Glaucoma or Ocular Hypertension

PURPOSE: To evaluate frequency of migraine, vasospasm (VS), family history (FH) of migraine, and family history of glaucoma (FHG) in different types of glaucoma in relation to age and stage of visual field loss (VFL) at diagnosis. METHODS: A total of 2170 patients with glaucoma or ocular hypertension (OH) were interviewed by using standardized questions concerning FHG, age at diagnosis, and potential risk factors, including migraine and VS. Of 2027 patients providing information on migraine, 1244 had primary open-angle glaucoma (POAG), 140 normal tension glaucoma (NTG), 49 pigmentary glaucoma, 64 pseudoexfoliation glaucoma (PEX), 138 OH, and 218 primary angle closure glaucoma (PACG). RESULTS: Of all patients, 13.7% reported migraine, 19.0% VS, 30.8% FH of migraine, and 40.3% FHG. Patients with FHG had a significantly higher frequency of migraine than patients without FHG (15.7% vs. 12.3%, P = 0.02). Migraine was significantly more frequent in NTG (21.4%) than POAG (13.1%; P = 0.01), PEX (7.8%; P = 0.02), and PACG (10.1%; P = 0.004). Compared to patients with POAG, patients with NTG had a 63.5% higher age-corrected probability for migraine (P = 0.007). There was no evidence for migraine or VS being prognostic factors regarding the extent of VFL at diagnosis. Migraine and VS were significantly more frequent in females. CONCLUSIONS: The higher frequency of migraine and VS in females could contribute to the female preponderance in NTG. Our findings suggest an association of NTG and migraine and a common, possibly polygenetic, vascular etiology of these two diseases both with familial predisposition