When lysosomal storage diseases may be uncovered as the culprit

April 1, 2012

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.