Heritable features of the optic disc: a novel twin method for determining genetic significance.

PURPOSE: Numerous genetic diseases and environmental stimuli affect optic nerve morphology. The purpose of this study was to identify the principal heritable components of visible optic nerve head structures in a population-based sample of twins. METHODS: Fifteen optic nerve specialists viewed stereoscopic optic nerve head photographs (Stereo Viewer-II; Pentax Corp., Tokyo, Japan) from 50 randomly selected monozygotic or dizygotic twin pairs. Before viewing, each expert was questioned about which optic nerve head traits they believed were inherited. After viewing a standardized teaching set, the experts indicated which twin pairs they thought were monozygotic. Participants were then questioned about how their decisions were reached. A rank-ordered Rasch analysis was used to determine the relative weighting and value applied to specific optic nerve head traits. RESULTS: The proportion of twin pairs for which zygosity was correctly identified ranged from 74% to 90% (median, 82%) across the panel. Experts who correctly identified the zygosity in more than 85% of cases placed most weighting on shape and size of the optic disc and cup, whereas experts with the lowest scores placed greater weighting on the optic nerve head vasculature in reaching their decisions. CONCLUSIONS: In determining the genetic components of the optic nerve head, the results of this study suggest that the shape and size of the optic disc and cup are more heritable and should receive a greater priority for quantification than should vascular features.

The optic nerve head in myocilin glaucoma.

PURPOSE: Approximately 1 in 30 unselected patients with open-angle glaucoma (OAG) have a mutation in the myocilin gene. The purpose of this study was to describe the morphologic features of the optic nerve head (ONH) in myocilin glaucoma. METHODS: A case-control design was adopted. Sixty-six patients heterozygous for a range of myocilin mutation (cases) were matched in disease severity to 105 patients with OAG known not to have a myocilin mutation (controls), using visual field findings. Quantifiable analysis of the ONH was undertaken of stereoscopic photographs, by using custom software with a z-screen. Subjective grading of the cup depth, lamina cribrosa pore shape and orientation, and the slope of the neuroretinal rim was performed by an examiner masked to the subject's mutation status. Mutation screening was conducted using either direct sequencing or single-stranded conformation polymorphism analysis. RESULTS: Patients with a myocilin mutation had glaucoma diagnosed earlier (P < 0.001) and had higher maximum recorded intraocular pressures (P < 0.001) than did the control OAG subjects. There was no significant (P > 0.05) difference in global disc area, global neuroretinal rim area, alpha-parapapillary atrophy, beta-parapapillary atrophy, slope of neuroretinal rim, or visible lamina cribrosa morphology between myocilin mutation carriers and patients with nonmyocilin glaucoma. Disc hemorrhages were identified more frequently in those without mutations (14/209 vs. 1/129), though this was not significant after correction for multiple hypothesis testing. CONCLUSIONS: No major structural or morphologic difference of the ONH was detected in pooled data from subjects who had myocilin mutations compared with data from individuals with nonmyocilin glaucoma.

Trends in registered blindness and its causes over 19 years in Western Australia.

PURPOSE: To estimate the population-based incidence rates of blindness registration and their trends over time in Western Australia. METHODS: A retrospective review was performed on all cases of bilateral blindness registered with the Association for the Blind of Western Australia between 1984 and 2002. The causes and mean age at blindness registration were ascertained and incidence rates of blindness due to various causes were calculated. RESULTS: A total of 3852 blind certificates were examined. From 1984 to 1994, the annual incidence of registered bilateral blindness decreased significantly at an average rate of 9.4% per year (p < 0.0001), but then rose at a mean rate of 4.1% per year (p < 0.0001). ARMD blindness similarly fell by 8.9% per year (p < 0.0001), but then rose after 1994 by 4.5% per year (p < 0.0001). The incidence due to glaucoma decreased at an average rate of 10.3% per year (p < 0.0001) until 1994 and then rose at 7.4% per year at borderline significance (p = 0.025). CONCLUSIONS: There has been a nonlinear decrease in the incidence of registered blindness, in particular glaucoma-related blindness, in Western Australia. Rates of total registered blindness and that due to ARMD fell from 1984 to 1994, but have risen since.

Wegener's granulomatosis presenting with painless bulbar-conjunctival ulcer and central retinal artery occlusion.

Herein an unusual case of Wegener's granulomatosis with a painless, bulbar-conjunctival ulcer in the right eye is reported. Rapid disease progression occurred with central retinal artery occlusion in the fellow eye. Biopsy of the diseased conjunctiva confirmed the clinical diagnosis. The clinical and histopathological findings are discussed.

Relationship between corneal thickness and optic disc damage in glaucoma.

BACKGROUND: Central corneal thickness (CCT) has been found to be a powerful predictor for the development of glaucoma in patients with ocular hypertension. This study aimed to determine whether CCT was also related to glaucoma severity. METHODS: The vertical cup/disc ratio (VCDR) was used as a single objective measure of glaucoma severity. Vertical cup diameters and vertical disc diameters were measured using a graticule attached to a 60 D Volk lens, in consecutive patients presenting to a single ophthalmologist. Measurements were corrected for magnification. The difference between corrected VCDR and 95% probability of VCDR normality was compared to CCT, which was measured with an ultrasonic pachymeter. RESULTS: During the study period 554 eyes from 281 patients with glaucoma were reviewed. The mean CCT was 519.0 microm, with the mean corrected VCDR being 0.71. A univariate linear regression model revealed that an increase of 10 microm in CCT resulted in a 0.009 decrease in the difference between true VCDR and the predicted normal VCDR. The R2 value for the regression was 0.04 (P < 0.0001). CONCLUSION: There is a highly statistically significant, albeit small, negative correlation between corneal thickness and glaucoma severity. This study supports the notion that CCT should be measured in the assessment of patients with glaucoma. Progressive thinning or presence of a thin cornea may have pathogenic or prognostic roles in some types of glaucoma.