Selected Publications

For each type of advanced AMD, it is generally preceded by earlier stages that are characterized by the formation of drusen between the retinal pigment epithelium (RPE) and Bruch's membrane. The elevation of the RPE layer can be quantified by spectral domain–optical coherence tomography (SD-OCT) devices. Here, we used this feature from Zeiss Cirrus OCT to automatically measure the area and volume of drusens and associated the sizes of drusen to the genes that are highly associated with advanced AMD. We found that the CFH genes and ARMS2/HTRA1 gene are the most consistently associated with the greater sizes of drusens.

Read more about this research on the IOVS journal (free access).

The American Ophthalmological Society (AOS) Thesis 2019.

We expanded our previous Age-related Macular Degeneration (AMD) prediction model by including 13 genes and demographic risk factors. Identifying high-risk individuals at an earlier stage could lead to better ways to present and treat AMD.

Check out the publication at the American Journal of Ophthalmology.

We evaluated morphologic features of the retina and choroid on optical coherence tomography (OCT) and found that some OCT features could predict progression to advanced stages of AMD.

Investigative Ophthalmology & Visual Science July 2017

This article is a good summary of decades of research work on AMD, including initial studies on diet, nutrition, smoking, and other modifiable factors, as well as genetic discoveries in the Seddon Lab, related to AMD onset and progression.

Checkout the publication at the IOVS journal.

We determined the association between genetic variants and transition to advanced AMD, and developed a predictive model and online application to assist in clinical decision making.

We discovered more rare genetic variants associated with risk of advanced AMD in genes in the complement immune pathway (CFI, C3, and C9 genes) with high impact on the development of this disease.

We reported the identification of a rare, high-penetrance variant in the complement factor H (CFH) gene that associates with increased risk of age-related macular degeneration. This finding suggests that loss-of-function alleles at CFH are likely to drive AMD risk and represents one of the first instances in which a common complex disease variant has led to the discovery of a rare penetrant mutation.

The Clinical Age-Related Maculopathy Staging (CARMS) system, for age-related maculopathy (ARM), uses a simple grading scale designed for clinical practice and clinical research protocols. It is a 5-level clinical scale, a valid and reliable staging system that can be used in both clinical practice and in clinical research protocols involving patients with all stages of ARM.

Dr. Seddon evaluates and grades all ocular records and imaging data using this system.