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FANCONI ANEMIA PRESENTING AS BILATERAL DIFFUSE RETINAL OCCLUSIVE VASCULOPATHY

Matthew Denny1, Sara J Haug, Emmett T Cunningham

  • 1*School of Medicine, Tulane University, New Orleans, Louisiana; †Department of Ophthalmology, California Pacific Medical Center, San Francisco, California; ‡West Coast Retina Medical Group, San Francisco, California; §Department of Ophthalmology, Stanford University School of Medicine, Stanford, California; and ¶The Francis I. Proctor Foundation, UCSF School of Medicine, San Francisco, California.

Retinal Cases & Brief Reports
|November 19, 2015
PubMed
Summary

Ocular findings like retinal hemorrhages can be the first sign of Fanconi anemia (FA), a rare genetic disorder. Early diagnosis through systemic workup and chromosomal breakage testing is crucial for managing FA.

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