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Published on: September 22, 2017
Optical Gap Biomarker in Cone-Dominant Retinal Dystrophy.
Jin Kyun Oh1, Joseph Ryu2, Jose Ronaldo Lima de Carvalho3
1Jonas Children's Vision Care, Department of Ophthalmology, Columbia University Irving Medical Center, New York, New York, USA; Department of Psychology, Columbia University, New York, New York, USA; State University of New York at Downstate Medical Center, Brooklyn, New York, USA.
Optical gaps in inherited retinal diseases are progressive and can serve as biomarkers for disease advancement. This phenotype is observed in conditions like Stargardt disease and cone dystrophies, with potential interocular differences.
Area of Science:
- Ophthalmology
- Genetics
- Medical Imaging
Background:
- Inherited retinal dystrophies (IRDs) encompass a group of genetic disorders affecting retinal function.
- Optical gaps identified via spectral-domain optical coherence tomography (OCT) represent a phenotype requiring further characterization.
- Understanding the progression of optical gaps can offer insights into the underlying mechanisms of IRDs.
Purpose of the Study:
- To characterize the longitudinal progression of optical gaps in patients with IRDs.
- To expand the known etiologies associated with the optical gap phenotype.
- To evaluate the optical gap as a potential biomarker for disease progression.
Main Methods:
- Retrospective cohort study of 36 patients with IRDs and identified optical gaps.
- Measurement of optical gap dimensions (width and height) using spectral-domain OCT.
- Correlation of gap dimensions with retinal thickness and analysis of interocular differences.
Main Results:
- Optical gaps demonstrated progressive changes in width and height over time in patients with Stargardt disease, achromatopsia, occult macular dystrophy, and cone dystrophies.
- Stargardt disease and cone dystrophies showed the most significant increases in gap width.
- Gap height correlated with central retinal thickness, and interocular discordance was noted in some patients.
Conclusions:
- The optical gap is a progressive phenotype associated with an expanding list of IRD etiologies.
- The progressive nature of optical gaps suggests their utility as biomarkers for monitoring disease progression.
- Interocular discordance of optical gaps may be a characteristic feature in specific IRDs like Stargardt disease and cone dystrophies.
