Mount Sinai Ophthalmologists use Breakthrough Imaging to Understand Eye Damage from Rare Congenital Retinal Disease
Researchers from New York Eye and Ear Infirmary of Mount Sinai used adaptive optics–retinal imaging technology that allows clinicians to examine microscopic structures of the eye in living patients with extreme detail in real time–to analyze and better understand a rare retinal disease called “fundus albipunctatus.” This inherited condition negatively affects the photoreceptor cells, which typically results in poor night vision. In late stages of the disease, color vision and central vision can also be impaired. There is currently no cure or effective treatment for this disease.
The study focuses on a 62-year-old patient who was misdiagnosed with Stargardt’s disease and lived with that diagnosis for more than a decade. He came to New York Eye and Ear Infirmary for further evaluation, where genetic testing and adaptive optics led doctors to properly diagnose him with fundus albipunctatus. These two genetic conditions can appear similar but have very different prognosis. Stargardt’s patients typically progress to worse vision as time goes on, while fundus albipunctatus is associated with night vision issues which typically don’t change.
With adaptive optics, ophthalmologists went onto find that in the later stages of fundus albipunctatus, some structures of photoreceptor cells were preserved, which implies that future treatments including gene therapy may play a role in reversing or preventing vision loss.
Why research is important: Researchers were able to characterize the cellular structure of the retinal photoreceptors in this condition in a living patient, which provides unique insight into what the disease looks like, and also sheds light on how it might be better managed in the future. This is important considering the condition is difficult to diagnose without genetic testing and a high level of clinical suspicion. If adaptive optics imaging is brought into routine clinical practice, this could play an important role in diagnosing this condition -before genetic results are available. Also, better understanding the physiology of this condition can lead to future treatments.
Why research is unique: This is one of the few studies that involves imaging of photoreceptor cells in the late stages of this disease, especially in an older patient. Findings provide insight into how this rare condition may evolve over time, and sets the groundwork for future studies.
What this means for patients: There are no proven cures or treatments for this disease, but earlier detection of this disorder could lead to improved genetic counseling – as the condition can be passed onto children. Study results suggest there may be a future role for gene therapy in fundus albipunctatus, although more work must be done in this area to develop this concept.
What this means for ophthalmologists: The patient in this report carried a misdiagnosis of Stargardt’s disease for more than a decade. Adaptive optics played a crucial role in establishing a correct diagnosis of fundus albipunctatus (in addition to a genetic test).
An accurate diagnosis in these types of cases can help ophthalmologists better predict whether or not vision will continue to deteriorate. This information is important to patients with inherited retinal disease. This case report also emphasizes the need for ophthalmologists and retina specialists to use a genetic testing panel on patients if they suspect an inherited retinal disease.
“New York Eye and Ear Infirmary is one of the only eye centers in the United States to use adaptive optics in a clinical setting. This case study emphasizes the importance of continuing to use this technology to better understand retinal diseases. These advanced imaging techniques could also have a profound impact when it comes to researching rare, genetic retinal conditions. The more we understand about how retinal structure and function are related, the more likely that future research will lead to breakthroughs such as gene therapy or other treatments,” Ethan Sobol, MD, Ophthalmology Resident at Icahn School of Medicine at Mount Sinai, said in a company news release.
“There is currently no cure for fundus albipunctatus, but the outcomes and appearance of these types of conditions can vary. Adaptive optics may give ophthalmologists more accurate prognosis of this condition or a better understanding of why the patient is experiencing their particular symptoms and help rule out any other underlying issues that may be contributing,” said Justin Migacz, PhD, Postdoctoral Fellow in Ophthalmology at New York Eye and Ear Infirmary of Mount Sinai.