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

Journal Article (Journal Article)

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.

Full Text

Duke Authors

Cited Authors

  • Thomas, AS; Grewal, DS; Toth, CA

Published Date

  • May 1, 2022

Published In

Volume / Issue

  • 16 / 3

Start / End Page

  • 293 - 295

PubMed ID

  • 31996560

Electronic International Standard Serial Number (EISSN)

  • 1937-1578

Digital Object Identifier (DOI)

  • 10.1097/ICB.0000000000000971

Language

  • eng

Conference Location

  • United States