INTERMEDIATE UVEITIS WITH RETINAL DETACHMENT IN A PATIENT WITH POMPE DISEASE.

PURPOSE: To describe the ocular findings in a patient with glycogen storage disease II (Pompe disease).

METHODS

Case report.

RESULTS

A 14-year-old boy with Pompe disease was referred for evaluation of a retinal detachment in the left eye. Indirect ophthalmoscopy revealed bilateral fibrotic snowbanks and an inferior rhegmatogenous retinal detachment extending into the macula. Fluorescein angiography revealed mild diffuse perivascular leakage in both eyes. The retinal detachment was repaired with scleral buckling and cryotherapy. Workup for the etiology of the intermediate uveitis was unrevealing.

CONCLUSION

Enzyme replacement therapy has improved the survival of individuals with Pompe disease. With greater patient longevity, new ocular associations may continue to emerge. Whether intermediate uveitis is an ocular association of Pompe disease remains to be determined.