Elevated intraocular pressure (IOP) is an important risk factor in developing glaucoma and IOP variability may herald glaucomatous development or progression. We report the results of a genome-wide association study meta-analysis of 18 population cohorts from the International Glaucoma Genetics Consortium (IGGC), comprising 35,296 multiethnic participants for IOP. We confirm genetic association of known loci for IOP and primary open angle glaucoma (POAG) and identify four new IOP loci located on chromosome 3q25.31 within the FNDC3B gene (p=4.19×10−08 for rs6445055), two on chromosome 9 (p=2.80×10−11 for rs2472493 near ABCA1 and p=6.39×10−11 for rs8176693 within ABO) and one on chromosome 11p11.2 (best p=1.04×10−11 for rs747782). Separate meta-analyses of four independent POAG cohorts, totaling 4,284 cases and 95,560 controls, show that three of these IOP loci are also associated with POAG.
ABSTRACT.Purpose: To study refractive state and visual acuity in citizens of Reykjavik 50 years and older. Methods: 1700 persons were randomly selected from the national population census. 1379 could be located and qualified whereof 1045 participated. Evaluation of refraction was performed using Nidek ARK 900 autorefracto-keratometer. Visual acuity was tested on a Snellen chart. Results: The prevalence of hypermetropia increases with age by 0.3 D in five years. The prevalence of ''against the rule'' astigmatism increased on average 5.3% and oblique 3.9% in five years. Analysis of corneal astigmatism measured by keratometer shows an ''against the rule'' change with age. Conclusions: Hypermetropia increases by age. The prevalence of astigmatism increases and the axis turns to ''against the rule''. The changes in total astigmatism and corneal astigmatism is almost parallel which might indicate that the ''against the rule'' change is related to changes in the cornea.
Ageing is a major risk factor for nuclear lens opacification, and smoking is a major modifiable risk factor. Cortical and nuclear lens opacifications do not share the same modifiable risk factors.
Aims-To characterise retinal function using electrophysiological and psychophysical tests in 17 patients with helicoidal peripapillary chorioretinal degeneration. Methods-The electroretinogram (ERG) was recorded using gold foil corneal electrodes. The electro-oculogram (EOG) was recorded using a standard protocol. Dark adaptometry was recorded with an SST-1 dark adaptometer and colour vision assessed with Ishihara plates and Farnsworth D-15. Results-All subjects had a recordable ERG. The amplitudes and implicit times of the a-and b-waves were within normal limits at all luminances in five subjects (age 21-70 years, mean 40 years). The ERG of six (age 26-55 years, mean 40.7 years) had subnormal amplitudes at all luminances, but normal implicit times, and six (age 38-81 years, mean 60.7 years) had abnormal ERGs with marked reduction of a-and b-waves, and delayed implicit times of the b-wave. The implicit times of the a-wave were normal in all subjects. A reduction in the b/a wave ratios was not found, nor was there selective loss of scotopic, mixed rod/cone, or cone responses. The light/dark ratio of the EOG was subnormal (150-185%) or abnormal (below 150%) in all but three subjects. Two patients with normal EOG showed normal ERGs in both eyes, but one had subnormal ERGs in both eyes. The scotopic sensitivity was normal in all subjects and dark adaptation showed a normal time course. Colour vision was normal in all patients. Conclusion-The results suggest that in most cases the function of the retinal pigment epithelium is aVected by this disease before any changes in the function of the sensory retina are detectable by our methods, and that retinal dysfunction is focal rather than diVuse. (Br J Ophthalmol 1998;82:280-285) Helicoidal peripapillary chorioretinal degeneration (HPCD) was first reported by Sveinsson 1 in 1939 as a disorder with unique phenotype and autosomal dominant transmission.2 The present name HPCD was given to this condition by Francescetti 3 in Switzerland. In the earliest publications by Sveinsson and by Francescetti, clinical photographs were not presented, which has led to some confusion regarding the terminology used in the literature. However, this has been illustrated in more recent reports on the same patients. 4 5We have kept a register of Icelandic patients for the past 15 years, and this now includes 102 individuals, all of whom have common ancestors in north eastern Iceland in the early 18th century. Clinical findings include lesions of the fundi that are always bilateral, with tongue-like, well defined strips of chorioretinal atrophy radiating from the optic nerve head. These lesions have been seen as early as 6 months of age, are of variable size in childhood, and enlarge slowly during life. Separate, mostly circular lesions may also be found in the periphery. As demonstrated by fundus photography and fluorescein angiography it appears that the pigment epithelium and the choriocapillaris are aVected initially, with later involvement of the larger choroidal vessels and th...
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