Risk characteristics of the combined geographic atrophy and choroidal neovascularisation phenotype in age-related macular degeneration

Abstract

Aim To investigate the risk characteristics of the combined geographic atrophy (GA) and choroidal neovascularization (CNV) phenotype of age-related macular degeneration (AMD) compared to GA or CNV. Methods Patients with advanced AMD were identified and divided into three groups using multimodal imaging: patients with GA in at least one eye, patients with CNV in at least one eye, and patients with simultaneous GA and CNV in at least one eye. Epidemiologic and clinical factors were gathered from patient questionnaires. Genotypes for age-related maculopathy susceptibility 2 (ARMS2) and complement factor H (CFH) were determined. Results 42 patients with GA or CNV and 16 patients with combined GA/CNV were identified. Patients with the combined phenotype were older (86.4 vs. 81.8 years, p=0.049) and had a higher prevalence of advanced AMD in the fellow eye (81.3% vs. 31.0%, p<0.001). CFH and ARMS2 risk alleles were not associated with the combined phenotype. Conclusion The combined GA/CNV phenotype has similar epidemiologic, clinical, and genetic features as GA and CNV but occurs at an older age and is more associated with advanced AMD in the fellow eye, suggesting that all these phenotypes are part of the same spectrum of disease and that the combined phenotype represents an even more advanced form of AMD than either GA or CNV.

Long-Term Treatment Outcomes in Type 3 Neovascularization: Focus on the Difference in Outcomes between Geographic Atrophy and Fibrotic Scarring

“…In our patients, these findings eventually developed in approximately two-thirds of the included eyes. GA is characterized by loss of choriocapillaris, RPE, and retinal outer layers [43,44]. GA is one of the important points of consideration while treating type 3 neovascularization, as eyes with type 3 neovascularization are at a high risk of GA development [45].…”

Geographic Atrophy and Choroidal Neovascularization in the Same Eye: A Review

“…Another study found no difference in CFH allele frequencies between subjects with the combined GA/CNV phenotype and those with GA or CNV alone, but contrary to the Grob. et al study, there was a lower frequency (albeit not statistically significant) of the ARMS2 risk allele among patients with the combined GA/CNV form [4]. It appears that the combined phenotype does not have a unique genetic profile, although further research remains to be done.…”

“…However, neither of the MPS Group studies focused on the combined GA/CNV form, and few patients with GA were included [35, 36]. One recent study showed that the combined GA/CNV entity tends to occur at an older age than GA or CNV alone and is associated with late AMD in the fellow eye, suggesting that the combined phenotype may be a later stage along the same spectrum of disease [4]. There were no differences in rates of hypertension, diabetes, or dyslipidemia, or in smoking status or family history of AMD, between the combined phenotype group and the group with either GA or CNV [4].…”

“…GA and CNV are not necessarily mutually exclusive and can occur simultaneously in the same eye. This co-occurrence of the 2 subtypes of late AMD is generally not considered a distinct entity in clinical and research settings; therefore, less is known about eyes progressing to the combined phenotype [4]. In this article, we review the current literature regarding the epidemiology, genetics, clinical presentation, and treatment options for the combined GA/CNV phenotype of AMD.…”

Choriocapillaris changes in dry age-related macular degeneration and geographic atrophy: a review

“…The widespread nature of dry AMD [ 4 , 5 ] and the unpredictability of its progression to choroidal neovascularization (CNV), geographic atrophy (GA), or both with sight threatening implications, continues to draw the interest of many investigators to better understand its pathogenesis. The association of dry AMD with the late AMD stages of CNV and GA has intrigued various researchers, and a possible underlying “unified” vascular abnormality has been suggested in its pathogenesis [ 6 – 9 ]. Advances in multimodal imaging have enhanced our understanding of dry AMD, including the identification of high risk features for its progression to GA and CNV, by facilitating high quality in vivo imaging.…”