When lysosomal storage diseases may be uncovered as the culprit

Article

Corneal and other ocular manifestations are features of many lysosomal storage diseases, and so you can play an important role in helping to diagnose these genetic disorders.

Corneal and other ocular manifestations are features of many lyso-somal storage diseases, and so you can play an important role in helping to diagnose these genetic disorders, according to Joseph P. Shovlin, OD.

While individual lysosomal storage diseases are rare, Dr. Shovlin

The clinical effects of lysosomal storage disease extend to multiple organs other than the eye with potentially serious sequelae, including death. Specific treatments are now available for some lysosomal storage diseases, and while intervention may not impart a cure, it can increase survival.

Early diagnosis is often critical, but unfortunately, patients with this disease often are the victims of a diagnostic odyssey. This underscores the need for you to be knowledgeable about the ocular manifestations of lysosomal storage diseases and include these conditions when appropriate in the differential diagnosis, Dr. Shovlin said.

"Research involving patients with Fabry disease or mucopolysaccharidosis I (MPS I) found these individuals saw between 6 and 13 physicians before receiving a definitive diagnosis," he said.

"Data from another study investigating the issue of lysosomal storage disease misdi-agnosis and diagnostic delay showed nearly 40% of patients were still undiagnosed after 1 year and 1 in 7 patients remained without an accurate diagnosis for 6 or more years. By maintaining an appropriate index of suspicion, the optometrist could be the hero." Dr. Shovlin continued.

Newsletter

Want more insights like this? Subscribe to Optometry Times and get clinical pearls and practice tips delivered straight to your inbox.

Recent Videos
Carolyn Majcher, OD, FAAO, detailed a talk she gave alongside Mary Beth Yackey, OD, at Optometry's Meeting 2025.
Shelby Brogdon, OD, details opportunities for practices to answer the patient's concerns from the chair before they hit the internet for their contact lens needs.
Christi Closson, OD, FAAO, shares her excitement for the new Acuvue Oasys MAX 1-Day multifocal for astigmatism
Karen R. Hoffman, OD, shares how customizable scleral lenses can transform vision for patients with complex corneas, achieving 20/20 outcomes and enhanced comfort.
Janna Pham, OD, shares key takeaways from a corneal tomography session she presented alongside Travis Pfeifer, OD, and Matthew McGee, OD.
Jacob Lang, OD, FAAO, details early symptom relief demonstrated in as early as day 1 during AOA's Optometry's Meeting 2025.
When Langis Michaud, OD, MSc, FAAO, FSLS, FBCLA, FEAOO, began fitting scleral lenses 20 years ago, there was limited knowledge about conjunctival characteristics, scleral shape, and lens behavior.
Ioussifova details what sets Johnson & Johnson's new lens apart from the rest, which was launched at the American Optometric Association's Optometry's Meeting 2025.
Alongside Rachel Steele, OD, Rafieetary outlines what to look for in blurred disc margins and the importance of acting fast and sending patients to the ED when needed.
Langis Michaud, OD, MSc, FAAO, FSLS, FBCLA, FEAOO, emphasized that every staff member should play a role in myopia management during his presentation at Optometry's Meeting 2025.
© 2025 MJH Life Sciences

All rights reserved.