Objective We evaluated monozygotic twin pairs with discordant age-related macular degeneration (AMD) phenotypes to assess differences in behavioral and nutritional factors. Design Case series. Participants Caucasian male twin pairs from the United States Twin Study of Macular Degeneration. Methods Twin pairs were genotyped to confirm monozygosity. Ocular characteristics were evaluated based on fundus photographs using the Wisconsin Grading System and a 5-grade Clinical Age-Related Maculopathy Staging System. We selected twin pairs discordant in each of the following phenotypic categories: Stage of AMD (n = 28), drusen area (n = 60), drusen size (n = 40), and increased pigment area (n = 56). The Wilcoxon signed-rank test and linear regression were used to assess associations between behavioral and nutritional characteristics and each phenotype within discordant twin pairs. Main Outcome Measures Differences in smoking and dietary factors within twin pairs discordant for stage of AMD, drusen area, drusen size, and pigment area. Results Representative fundus photographs depict the discordant phenotypes. Pack-years of smoking were higher for the twin with the more advanced stage of AMD (P = 0.05). Higher dietary intake of vitamin D was present in the twins with less severe AMD (P = 0.01) and smaller drusen size (P = 0.05) compared with co-twins, adjusted for smoking and age. Dietary intakes of betaine and methionine were significantly higher in the twin with lower stage of AMD (P = 0.009) and smaller drusen area (P = 0.03), respectively. Conclusions The twin with the more advanced stage of AMD, larger drusen area, drusen size, and pigment area tended to be the heavier smoker. The twin with the earlier stage of AMD, smaller drusen size and area, and less pigment tended to have higher dietary vitamin D, betaine, or methionine intake. Results suggest that behavioral and nutritional factors associated with epigenetic mechanisms are involved in the etiology of AMD, in addition to genetic susceptibility.
Objective To study retinal morphological changes around the optic disc in patients with peripapillary atrophy (PPA) with high-resolution spectral domain optical coherence tomography (SD OCT). Design Cross-sectional, retrospective analysis Participants One hundred and three eyes of 73 patients with PPA and 21 eyes of 12 normal patients seen at the New England Eye Center, Tufts Medical Center between January 2007 and August 2009. Methods SD OCT images taken through the region of PPA were quantitatively and qualitatively analyzed. Inclusion criteria included eyes with at least 300 μm of temporal PPA as detected on color fundus photographs. The study population was divided into subgroups according to the following clinical diagnoses: glaucoma (n=13), age-related macular degeneration (n=11), high myopia (n=11), glaucoma and high myopia (n=3), and optic neuropathy (n=11). Fifty-four patients were classified with other diagnoses. Using OCT software, retinal thickness and retinal nerve fiber layer thickness (RNFL) were both manually measured perpendicular to the internal limiting membrane and retinal pigment epithelium (RPE) 300 μm temporal to the optic disc, within the region of peripapillary atrophy. Qualitative analysis for morphological changes in the atrophic area was also performed. Main outcome measures Qualitative assessment and quantitative measures of retinal and retinal nerve fiber layer thickness in PPA. Results The study group was categorized by 6 characteristics demonstrated in the area of PPA by SD OCT: RPE loss with accompanying photoreceptor loss, RPE disruption, RNFL thickening with plaque-like formation, intraretinal cystic changes, inner and outer retinal thinning, and abnormal retinal sloping. Statistical analysis of measurements revealed a statistically significant difference in the total retinal thickness between normal eyes and eyes with PPA (p = 0.0005), with normals 15% thicker than the PPA group; however, the RNFL thickness was not significantly different between the normal and PPA group (p = 0.05). Conclusion Eyes with peripapillary atrophy manifest characteristic retinal changes that can be described via SD OCT.
Purpose To evaluate choroidal thickness with spectral domain optical coherence tomography (SDOCT) in subjects with retinal pigment epithelial (RPE) tear as compared with the choroidal thickness of their fellow eye. Methods For this cross sectional investigation, 7 eyes of 7 patients with neovascular age-related macular degeneration and RPE tear in one eye imaged with SDOCT were identified. Choroidal thickness was measured from the posterior edge of the retinal pigment epithelium to the choroid/sclera junction at 500-μm intervals up to 2500 μm temporal and nasal to the fovea in both the eye with the RPE tear and the eye with intact RPE. All measurements were performed by 2 independent observers and averaged for the purpose of analysis. Measurements were compared using paired t-test. Results The average age of patients was 79 years (range 66-88). All subjects had dome-shaped pigment epithelial detachments (PED) prior to RPE tear and no dome-shaped PED in the unaffected eye. Average subfoveal choroidal thickness in the eye with the RPE tear was 154.9µm ± 10.1µm. Average subfoveal choroidal thickness in the eye with intact RPE was 212.9µm ± 10.6µm (p=0.035). Conclusion There is a significant decrease in subfoveal choroidal thickness in subjects with RPE tear as compared with their fellow eye with intact RPE. It is unclear if this thinning is a consequence of or precedes the RPE tear. Further studies are necessary to prospectively follow choroidal thickness in subjects with dome-shaped PED.
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