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PURPOSE: To study age- and sex-adjusted heritability of small hard drusen and early age-related macular degeneration (AMD) in a population-based twin cohort. METHODS: This was a single-centre, cross-sectional, classical twin study with ophthalmic examination including refraction, biometry, best-corrected visual acuity assessment, colour and autofluorescence fundus photography, and fundus optical coherence tomography. Grading and categorization of drusen was by diameter and location. RESULTS: The study enrolled 176 same-sex pairs of twins of mean (SD) age 58.6 (9.9) years. The prevalence of the four phenotypes ≥20 small hard macular drusen (largest diameter < 63 µm), ≥20 small hard extramacular drusen, intermediate drusen (63-125 µm) anywhere, and large drusen (>125 µm) anywhere was 12.4%, 36.4%, 5.8%, and 8.4%, respectively, and the respective heritabilities, adjusted for age and sex, were 78.2% [73.5-82.9], 69.1% [62.3-75.9], 30.1% [4.1-56.1], and 65.6% [26.4-100]. Age trajectory analysis supported a gradual transition to larger numbers of small hard drusen with increasing age. The heritability of ≥20 small hard drusen was markedly lower than the 99% found in the 40% overlapping twin cohort that was seen 20 years earlier. CONCLUSION: Numerous (≥20) small hard drusen and larger drusen that fit the definition of dry AMD were highly heritable. Small hard drusen counts increased with age. Decreasing heritability with increasing age suggests that the impact of behavioural and environmental factors on the development of small hard drusen increases with age.

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PURPOSE: To examine cone density in relation to gestational and morphological parameters in the Copenhagen Child Cohort (CCC2000). METHODS: The macula was imaged using adaptive optics in 1,296 adolescents aged 16-17 years. Axial length and distance visual acuity were determined. Absolute and angular cone photoreceptor density were analysed for an 80 × 80-pixel area, 2 degrees temporal to the fovea. Association with axial length was analysed with linear regression. Correlation with visual acuity was described with a Pearson correlation coefficient. Associations of cone density with gestational parameters, maternal smoking, sex and age were analysed using multiple regression adjusted for axial length. RESULTS: Mean absolute cone density was 30,007 cones/mm2 (SD ± 3,802) and mean angular cone density was 2,383 cones/deg2 (SD ± 231). Peri- and postnatal parameters, sex and age had no statistically significant effect on cone density (p > 0.05). Absolute cone density decreased with longer axial length (-2,855 cones/mm2 per mm or -9.7% per mm, p < 0.0001). For angular density, which included a correction for the geometrical enlargement of the eye with axial length, a decrease with axial length was detectable, but it was small (-20 cones/deg2 per mm or -0.84% per mm, p = 0.009). CONCLUSIONS: The decrease in cone density per unit solid angle with increasing axial length was small, less than 1 percent per mm, indicating that expansion of the posterior pole during the development of refraction takes place without a clinically significant loss of cones. Perinatal parameters, within the spectrum presented by the study population, had no detectable effect on cone density.

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PURPOSE: To investigate long-term functional and anatomical outcomes, discontinuation patterns, drug switching and rates of nonimprovement in patients treated with ranibizumab pro re nata (PRN) regimen for diabetic macular oedema (DME) according to the Danish national guidelines. METHODS: Retrospective cohort study of 566 eyes in 566 patients with centre-involved DME who started intravitreal treatment with ranibizumab between January 2011 and December 2013 in the Greater Copenhagen region. Data were retrieved from a database and patient records between January 2011 and March 2016 and analysed using mixed-model statistics. RESULTS: At the conclusion of follow-up, 24.6% were in active ranibizumab follow-up, 25.4% had switched to other intravitreal pharmacotherapy, 31.6% had been discontinued because of disease stability, 13.8% had been lost to follow-up, 1.4% had been discontinued because of low visual acuity (VA), and 3.2% had died. At baseline, mean best-corrected visual acuity (BCVA) and mean central subfield thickness (CST) were 64.9 (±15.0) letters and 400.2 (±120.3) µm. Mean change in BCVA and mean change in CST from baseline to 3, 12, 24, 36 and 48 months of follow-up were +3.9, +3.5, +2.7, +1.8, +2.3 letters and -97.4, -102.6, -106.9, -105.9, -131.6 µm, respectively. Mean number of injections was 6.1 in year 1 and 1.8 in year 4. In 93 patients, drug switching to aflibercept showed no difference between the two drugs on BCVA or CST. In 79 patients, CST decreased <10% compared to baseline during the first year. CONCLUSION: In a single-centre clinical setting, 566 patients treated for DME with ranibizumab according to the Danish national guidelines were followed for up to 4 years. Best-corrected visual acuity (BCVA) outcomes are in the low end of clinical studies, but studied on a wider population and achieved with fewer injections.

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PURPOSE: To investigate central subfield thickness (CST) nonimprovers' anatomic response in macular areas outside the central subfield and the time course of this response. Furthermore, to investigate the relationship between peripheral improvement and visual acuity. DESIGN: Retrospective study. PARTICIPANTS: A total of 566 eyes in 566 patients with center-involved diabetic macular edema who initiated intravitreal treatment with ranibizumab between January 1, 2011 and December 31, 2013 in the Greater Copenhagen Region. Follow-up was completed at 2 years. METHODS: Patients were initially grouped as CST improvers and CST nonimprovers. The CST improvers had a ≥10% reduction in CST on ≥1 visit as opposed to CST nonimprovers with <10% reduction in CST on all visits. The CST nonimprovers were divided into peripheral improvers with ≥10% reduction in retinal thickness in ≥1 subfield outside the central subfield on ≥1 visit and overall nonimprovers with <10% reduction in retinal thickness in all subfields on all visits. Thus, 3 response groups were defined on the basis of retinal thickness change during the first year of treatment: CST improvers, peripheral improvers, and overall nonimprovers. MAIN OUTCOME MEASURES: The OCT total volume and best-corrected visual acuity (BCVA). RESULTS: A total of 79 of 566 patients (14%) were CST nonimprovers, consisting of 45 (57%) peripheral improvers and 34 (43%) overall nonimprovers. For CST improvers and peripheral improvers, total retinal volume decreased from baseline to 3 months: -3.93% per month (95% confidence interval [CI], -4.15 to -3.71) and -2.00% per month (95% CI, -2.74 to -1.26), respectively. Overall nonimprovers' total retinal volume remained unchanged from baseline to 3 months: 0.13% per month (95% CI, -1.02 to 0.76). From 3 to 24 months, the decrease in total retinal volume was not significantly different among the 3 groups. Improvement in BCVA was not significantly different among the 3 groups from baseline to 3 months (P = 0.28). After 3 months, BCVA remained stable. CONCLUSIONS: Some 57% of CST nonimprovers experience a decrease in retinal volume outside the central subfield within the first 3 months of treatment and then remain stable in central and peripheral subfields. However, peripheral improvement did not influence BCVA, and development of BCVA was similar for the response groups. Our study shows that re-treatment criteria should be based on BCVA stability for CST nonimprovers rather than a main reliance on OCT parameters.