Age-Related Macular Degeneration Eyes Presenting with Cuticular Drusen and Reticular Pseudodrusen

This study aimed to describe the clinical characteristics of age-related macular degeneration (AMD) eyes with both cuticular drusen (CD) and reticular pseudodrusen (RPD). The clinical records of 13 eyes of seven patients diagnosed with CD and RPD were retrospectively reviewed. All patients underwent a complete ocular examination and multimodal imaging. The distribution patterns of CD (macular and diffuse type) and RPD (localized, intermediate, and diffuse type), presence of soft drusen, large drusen (> 200 µm), variant subretinal drusenoid deposits, and macular complications were investigated. The mean age at initial presentation was 71.4 ± 8.8 years and six patients were female. The mean subfoveal choroidal thickness was 143.8 ± 25.1 µm. The distribution of CD was of the macular type in all eyes. Distribution of RPD was localized in 11 eyes (84.6%) and intermediate in two eyes (15.4%). Soft drusen, large drusen, and variant subretinal drusenoid deposits were present in 13 (100%), 12 (92.3%) and, seven (53.8%) eyes, respectively. Macular neovascularization was observed in two eyes (15.4%). CD and RPD can coexist in eyes with AMD. Multimodal imaging should be used for AMD eyes with features suggestive of CD and RPD, considering the high likelihood of developing late AMD.

Inner Retinal Layer Thickness Alterations in Early Age Related Macular Degeneration in Eyes with Subretinal Drusenoid Deposits or Conventional Drusen

The purpose of this study was to evaluate central and parafoveal inner retinal layer thickness in patients with subretinal drusenoid deposits (SDD) or conventional drusen (CD). Participants underwent comprehensive ophthalmoscopic examination. Evidence of SDD or CD was evaluated with near infrared reflectance and spectral domain optical coherence tomography. Quantification of subfoveal lesions was made through a qualitative analysis of vertical and horizontal SD-OCT scans centered on the fovea. Inner retinal layer macular thickness measurements were obtained for central circles with 1, 3, and 5 mm diameter. Continuous variables were compared by the analysis of covariance (ANCOVA) with post-hoc Tukey HSD correction for multiple comparison analysis. Fifty-five patients were included in the study; 18 eyes with SDD alone, 19 eyes with CD alone, and 18 eyes of healthy age-matched subjects. Eight eyes with SDD (44%) and 13 eyes with CD (68%) had subfoveal lesions. There was significant reduction in the inner retinal layer thickness in the central 1mm area and in the superior 3 mm area in the SDD and CD group compared to controls. In conclusion the inner retinal layer is thinner in the central macula and in the superior parafovea in eyes.

Systemic and Genetic Risk Factors for Reticular Macular Disease and Soft Drusen in Age- Related Macular Degeneration

Purpose: Soft drusen and subretinal drusenoid deposits (SDD) aka reticular macular disease (RMD) characterize two pathways to advanced age-related macular degeneration (AMD). We propose these pathways are distinct diseases, with distinct genetic risks, serum risks and associated systemic diseases. Methods: 126 Subjects with AMD had: retinal imaging for RMD status, serum risks, genetic testing, and histories of cardiovascular disease (CVD) and stroke. Results: 62 subjects had RMD, 64 were nonRMD (drusen only), 51 had CVD or Stroke. RMD correlated significantly with: ARMS2 risk allele (p= 0.019); lower mean serum HDL (61 vs. 69 mg/dl, p= 0.038, t test); CVD and troke (34/51 RMD, p= 0.001). NonRMD correlated/trended with: APOE2 (p= 0.032) and CETP (p= 0.072) risk alleles. 97 subjects total had some drusen, which correlated with CFH risk (p= 0.016). Multivariate independent risks for RMD were: CVD and Stroke (p= 0.008), and ARMS2 homozygous risk (p= 0.038). Conclusion: The RMD and soft drusen AMD pathways have distinct systemic associations, serum and genetic risks. RMD is associated with CVD and stroke, ARMS2 risk, and lower HDL; drusen with CFH risk and two lipid risk genes. These pathways appear to be distinct diseases leading to advanced AMD.

Clinical Characteristics of Neovascular Age-Related Macular Degeneration without Typical Drusen

Purpose. To evaluate the clinical characteristics of neovascular age-related macular degeneration (nAMD) patients without typical drusen. Methods. We retrospectively studied 165 eyes in 165 patients with treatment-naïve nAMD, including typical AMD and polypoidal choroidal vasculopathy (PCV). According to the fellow eye condition, the patients were divided into nAMD with and without typical drusen groups. Eyes with soft drusen or subretinal drusenoid deposits were classified into the nAMD with the typical drusen group. Smoking status and diagnoses of hypertension and diabetes were identified from hospital records and patient recall. We assessed best-corrected visual acuity (BCVA), central retinal thickness (CRT) at the fovea, subfoveal choroidal thickness (SFCT), and the number of injections received. Results. The nAMD without typical drusen group was significantly younger (77.9 ± 7.6 vs. 71.8 ± 8.3, P < 0.001 ) and had thicker SFCT at baseline (207.9 ± 99.5 vs. 260.1 ± 113.2 μm, P = 0.007 ) and a higher proportion of PCV (30.6 vs. 63.1%, P < 0.001 ). The proportion of ever-smokers was significantly higher in the nAMD without typical drusen group (54.8 vs. 70.9%, P = 0.036 ). There were no statistically significant differences in the proportion of patients with hypertension or diabetes; BCVA, CRT, or SFCT changes; or the number of injections between the nAMD with and without typical drusen groups. Conclusion. The clinical features of patients in the nAMD without typical drusen group were almost identical to those of pachychoroid-driven choroidal neovascularization (CNV) patients. The nAMD without typical drusen group had a significantly higher proportion of ever-smokers than the nAMD with typical drusen group. Smoking could be a risk factor for the development of pachychoroid-driven CNV.