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Exfoliation syndrome (XFS) is the most common known risk factor for secondary glaucoma and a major cause of blindness worldwide. Variants in two genes, LOXL1 and CACNA1A, have previously been associated with XFS. To further elucidate the genetic basis of XFS, we collected a global sample of XFS cases to refine the association at LOXL1, which previously showed inconsistent results across populations, and to identify new variants associated with XFS. We identified a rare protective allele at LOXL1 (p.Phe407, odds ratio (OR) = 25, P = 2.9 × 10−14) through deep resequencing of XFS cases and controls from nine countries. A genome-wide association study (GWAS) of XFS cases and controls from 24 countries followed by replication in 18 countries identified seven genome-wide significant loci (P < 5 × 10−8). We identified association signals at 13q12 (POMP), 11q23.3 (TMEM136), 6p21 (AGPAT1), 3p24 (RBMS3) and 5q23 (near SEMA6A). These findings provide biological insights into the pathology of XFS and highlight a potential role for naturally occurring rare LOXL1 variants in disease biology.

Background Major complaints of many patients with olfactory dysfunction relate to the impairment of quality of life. Nevertheless, it is unclear to what extent there is a correlation between ratings of olfactory abilities/impairment and olfactory function.Methods Patients with olfactory dysfunction (n = 152) were examined psychometrically using the “Sniffin’ Sticks” test battery. Ratings of olfactory function and ratings of impairment were recorded using visual analog scales.Results Following standardized olfactory testing, 78 of the 152 patients were categorized as functionally anosmic, 64 as hyposmic, and 10 as normosmic. Groups differed significantly with regard to ratings of olfactory function. Functionally anosmic patients rated impairment to be significantly higher compared with hyposmic and normosmic patients. Ratings of olfactory function correlated significantly with measured olfactory function (r = +0.57) and ratings of impairment (r = —0.30).Conclusion There was a moderate correlation between ratings and measures of olfactory function. On average, functionally anosmic patients recognized their olfactory loss, although, on an individual basis, there were striking differences between measures and ratings of olfactory function.

ObjectiveSome migraine and cluster headaches may be triggered by stimulation of intranasal contact points via the trigeminovascular system. Endonasal surgery is successful in some patients, but long‐term outcomes have not been reported.

BackgroundThe purpose of this study was to evaluate the influence of previous argon laser trabeculoplasty (ALT) on transforming growth factor-beta 2 (TGF-beta 2) concentration of the aqueous humor and its influence on bleb scarring after trabeculectomy.MethodsFifty-one patients with primary open-angle glaucoma (POAG) and 29 patients with exfoliation (XFS) glaucoma were recruited for this prospective study before undergoing trabeculectomy. Sixty to 200 µl of aqueous humor were analyzed for total and biologically active TGF-beta 2 concentrations (R and D Systems). TGF-beta 2 levels and a standardized bleb assessment were compared between the ALT- and non-ALT-treated groups.ResultsPOAG eyes without ALT showed significantly higher total TGF-beta 2 levels (2,317.7±1,041.1 pg/ml) than eyes with previous ALT (1,621.6±899.6 pg/ml; P=0.026). No significant difference was found for active TGF-beta 2 levels (ALT: 238.1±119.0 pg/ml; no ALT: 220.1±96.9 pg/ml; P=0.585). In XFS patients ALT did not alter total TGF-beta 2 levels (ALT: 1,524.9±624.9 pg/ml, no ALT: 1,220±499.1 pg/ml; P=0.20), but active TGF-beta 2 was significantly higher in the ALT-treated (237.0±99.7 pg/ml) than in the non-ALT-treated (140.0±95.3 pg/ml, P=0.028) group. Bleb grading revealed no statistical difference between the ALT- and non-ALT-treated groups in POAG ( P=0.545, Fisher's exact test), whereas XFS patients with ALT were at increased risk for scarring compared to non-ALT-treated patients ( P=0.053).ConclusionsALT appears to increase the risk of scarring in XFS patients because of increased levels of activated TGF-beta 2.

Abstract. Purpose: To investigate the transforming growth factor β2 (TGF-β2) levels and total protein levels in the aqueous humor of eyes with different types of glaucoma [primary open-angle glaucoma (POAG), pseudoexfoliation glaucoma (PSX), juvenile glaucoma (JG)], and the relation to filtering bleb development after trabeculectomy. Methods: Aqueous humor was collected at the beginning of surgery from 52 eyes with glaucoma (29 POAG eyes, 17 PSX eyes, 6 JG eyes) and from 29 control eyes that underwent cataract operation. TGF-β2 levels (intrinsically activated and total TGF-β2 ) using ELISA methods as well as total protein concentrations of the aqueous humor were determined. All preoperative clinical data of the glaucoma eyes (age, gender, IOP, previous treatment, type of surgery) were compared with the TGF-β2 levels. In 40 of these eyes, the postoperative follow-up (filtering bleb development, need for intervention, IOP) was correlated to the preoperatively determined TGF-β2 levels. Results: TGF-β2 levels were increased in nearly half of the eyes with POAG and in most of the eyes with JG, but in eyes with PSX, TGF-β2 levels were within the normal range. No correlation between TGF-β2 levels and age, gender, IOP, previous treatment, or type of surgery, or between TGF-β2 levels and protein levels in aqueous humor, was found. Correlation between bleb formation and TGF-β2 levels revealed that all but two of the POAG eyes with good clinical outcome (type 1 bleb) had normal levels of activated TGF-β2. Of the 13 eyes that needed postoperative intervention (type 2 and type 3 bleb), 8 had high and 5 had normal TGF-β2 levels. Conclusions: PSX eyes differ from POAG and JG eyes not only by their clinical or biomicroscopic appearance, but also by their normal TGF-β2 levels in aqueous humor. The fact that most of the POAG eyes with favorable bleb development had normal TGF-β2 levels indicated that there might be some relationship between bleb formation and TGF-β2 levels. On the other hand, the fact that eyes with less favorable bleb development had both low and high TGF-β2 levels indicated that other factors are also involved in the scarring of the filtration bleb.

OBJECTIVES: Olfactory meningiomas are rare benign tumours and represent about 12% of all basal meningiomas. Anosmia is thought to be among the first symptoms, even though patients often present with headaches or visual problems. However, so far no detailed physophysical tests of olfactory function have been performed in a large number of those patients. METHODS: Twelve patients (five men, seven women; mean age 52 years) with olfactory meningiomas were examined. In all patients extensive preoperative and postoperative lateralised olfactory testing was performed using the "Sniffin' Sticks" test battery, a psychometric testing tool. In eight cases the meningioma was lateralised (five left, three right), in four patients a bilateral meningioma was found. In addition to a detailed ear, nose, and throat examination MRI was performed in all patients. RESULTS: In preoperative testing six patients were found to be anosmic on the side of the tumour, two were hyposmic. Four patients were normosmic. Postoperative investigations showed lateralised anosmia in four patients on the operated side, three were normosmic on the contralateral side and one hyposmic. The remaining eight patients were completely anosmic postoperatively. CONCLUSIONS: (1) Contrary to expectations, olfactory testing seems to be of little help in detecting olfactory meningiomas. (2) The likelihood of normal postoperative olfactory function contralateral to the tumour was high when the tumour was less than 3 cm in diameter and preoperative normosmia had been established. (3) Preservation of olfactory function ipsilateral to the tumour seems to be extremely difficult, irrespective of tumour size or surgical approach.

To determine the cause of unilateral dilated tortuous episcleral vessels in a 34-year-old patient.

Objectives/Hypothesis:Laryngectomees are often considered to be completely anosmic. The aim of this study was to determine whether anosmia in laryngectomees reflects diminished transport of odorants to the olfactory epithelium or olfactory epithelial damage.