Analyzing the macula in greyscale and quantifying its reflectivity using optical coherence tomography (OCT) could be a useful method of imaging for individuals with sialidosis type 1.
Why this matters
Sialidosis type 1 is a genetic, lysosomal storage disease caused by a deficiency of the enzyme neuraminidase. A ‘cherry-red’ spot on the macula is a well-known characteristic of sialidosis. However, the effects of this feature on an individual’s visual acuity and future visual function is not well understood. The ophthalmological findings from this study could be considered as a possible outcome measure for use in future disease-modifying interventional clinical trials.