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

Abstract

 

Purpose

 

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 retrospectively identified and divided into 2 groups using multimodal imaging (Fig1): patients with GA or CNV and patients with simultaneous GA and CNV in at least one eye. Epidemiologic and clinical factors were gathered from patients’ 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). The frequencies of the risk allele (C) for CFH (0.52 vs 0.66, p=0.20) and the risk allele (T) for ARMS2 (0.45 vs 0.41, p=0.65) were not significantly different between the 2 groups (Table 1).

 

Conclusions

 

The combined GA/CNV phenotype shares similar epidemiologic, clinical, and genetic features with 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 GA and CNV.

 

 

Figure1. Combined GA and CNV in the right eye of a 75 year-old man A) Mulitlobular GA is visible on infrared modality as small round or oval atrophic areas of increased reflectance (Green arrows). B) Occult CNV is shown on spectral domain optical coherence tomography as fibrovascular material below the RPE (Red arrows). C) Colour photograph clearly shows the atrophic depigmented oval and round areas of GA. (Yellow arrows) D) GA is seen in the intermediate phase of the fluorescein agiography (FA) as a hyperfluorescent lesions due to window defect. (Blue arrows) E) Occult CNV is characterized by an ill-defined area of irregular leakage and stippled hyperfluorescence in the late phase of the FA. (Red circle).

 

 

a. Patients with AMD and either GA or CNV. b. Patients with AMD and both GA and CNV simultaneously in the same eye. c. P-values resulted from χ2 tests and double-sided Fisher’s exact tests. d. The p-value is 0.049 but has been rounded to 0.05.

 

Keywords: 412 age-related macular degeneration • 609 neovascularization