The Impact of ADOA – Interview with Christina Eckmann-Hansen
In October, we spoke with Christina Eckmann-Hansen, an optometrist who has completed a PhD in ADOA at the University of Copenhagen, supplemented with additional research into the disease. Although our primary interest is in possible treatments, we find that the diagnosis and impact of ADOA are not widely known among clinicians. Furthermore, it is important to be able to monitor the progression of ADOA during drug trials. Christina’s research contributes to these goals.
In ADOA, the primary problem that leads to vision loss is the death of retinal ganglion cells, which are connected to the retina. The retina is a thin layer of tissue at the back of the eye that plays a crucial role in vision by capturing light and sending visual signals to the brain. ADOA can also lead to changes in the retina.
Christina Eckmann-Hansen's research into ADOA
Christina Eckmann-Hansen, an optometrist with both a Bachelor's degree in Optometry from Copenhagen and a Master's degree in Optometry and Visual Sciences from Aarhus, has conducted extensive research among Danish patients with ADOA. She has examined over 150 Danish individuals with ADOA, which has provided valuable data and insight into daily life with ADOA.
In her PhD research, Christina investigated three aspects: 1) The quality of life in ADOA patients, 2) The severity of ADOA based on birth characteristics, and 3) How widespread retinal lacunae are in ADOA. Retinal lacunae are small, round or oval areas on the retina where the tissue has thinned or lost its normal structure, so-called microcavities. In ADOA, this is the result of the death of nerve cells in that specific area. In addition to her PhD research, she has described two methods to quickly diagnose ADOA in less specialized centers.
The effect of ADOA on quality of life
Christina’s groundbreaking research for her PhD focused on quality of life in ADOA patients—an area that had previously been understudied. Her study, published in Acta Ophthalmologica, examines the significant impact of Autosomal Dominant Optic Atrophy (ADOA) on vision-related quality of life. In this study, Christina evaluated 145 ADOA patients compared to healthy family members and unrelated controls. In adults, vision loss affected tasks such as driving, social activities, and overall well-being. Children with ADOA experienced difficulties in school, particularly with reading and tasks requiring small text. Lower scores in vision-related quality of life were associated with poorer vision and difficulty with contrast vision. Overall, Christina’s work highlights how much ADOA can impact daily routines and the importance of recognizing these challenges.
The prevalence of retinal microcavities in ADOA patients
In Christina’s study of retinal micro-cavities, published in the Journal of Neuro-Ophthalmology, she found that 23% of patients had these micro-cavities, which is higher than reported in previous studies. A new imaging technique called adaptive optics was found to be more sensitive than conventional methods for detecting these micro-cavities. Patients with micro-cavities were younger and had thinner nerve fiber layers in the retina than patients without these cavities. It is believed that these cavities develop in the retina when ganglion cells die and disappear when this process stops, resulting in weaker vision. The micro-cavities could be an indicator of when to treat in potential future studies.
Research into birth-related factors in ADOA
Christina also conducted a study published in Investigative Ophthalmology & Visual Science in which she investigated birth-related factors that may influence visual development in ADOA patients. Using data from Danish birth registries, she analyzed variables such as birth weight, gestational age, and maternal health during pregnancy. Her research demonstrated an association between longer gestational age and greater light sensitivity in the central visual field of ADOA patients. Additionally, she found differences in how retinal nerve fiber layer thickness correlates with gestational age across different types of ADOA mutations, suggesting that these early-life factors may play a role in visual outcomes in people with ADOA.
New developments in the diagnosis of ADOA
Diagnosing ADOA often takes a long time because most ophthalmologists rarely see the disease. Therefore, a faster and relatively easier diagnosis is important for patients. Christina used OCT (Optical Coherence Tomography) scans as a possible diagnostic tool for ADOA. These machines scan the macula and optic nerve from the side and calculate the average thickness of areas seen from above. Her initial study showed that the thickness of the inner cell layers in the macula is greater in the area closer to the nose in healthy people, while this is the opposite in patients with ADOA. Her study also found that the thickness of the outer retinal nerve layer in ADOA patients is different than in controls. Specifically, the retinal nerve is thinner closer to the nose and thicker at the outer edge in ADOA patients, while this is the other way around in healthy people. This discovery suggests that OCT scans could provide clinicians with a tool for rapid diagnosis of ADOA, indicating when further testing is needed. By leveraging widely accessible tools such as the Heidelberg OCT machine, this approach could help clinicians determine the timing for genetic testing, potentially accelerating the diagnostic process for ADOA patients.
