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Shwachman-Diamond syndrome associated with rod-cone dystrophy.

Jingwen ZhangThales A C de GuimaraesDorothy ThompsonMichel Michaelides
Published in: Retinal cases & brief reports (2024)
We report a patient with Shwachman-Diamond syndrome with severe early-onset rod-cone dystrophy noted at the age of 16. Slow anatomical progression has been observed over the subsequent ten years, with relative functional macular preservation to support a visual acuity of 6/36 in both eyes.
Keyphrases
  • early onset
  • late onset
  • case report
  • optical coherence tomography
  • diabetic retinopathy
  • cataract surgery