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Ophthalmic Images
June 16, 2021

Corneal Crystals as an Initiating Factor for a Systemic Bone Marrow Transplant

Author Affiliations
  • 1Virginia Commonwealth University School of Medicine, Richmond
  • 2Commonwealth Eye Care Associates, Richmond, Virginia
  • 3Department of Human and Molecular Genetics, Virginia Commonwealth University School of Medicine, Richmond
  • 4Department of Ophthalmology, Virginia Commonwealth University of School of Medicine, Richmond
  • 5Department of Pediatrics, Children’s Hospital of Richmond at VCU, Virginia Commonwealth University School of Medicine, Richmond
JAMA Ophthalmol. 2021;139(6):e211539. doi:10.1001/jamaophthalmol.2021.1539

A 59-year-old woman presented with bilateral corneal crystals (Figure, A). Ocular cystinosis was suspected; however, there were no pathogenic variants in the cystinosin, lysosomal cystine transporter (CTNS) gene. No underlying causative mechanism raising concern for systemic disease was revealed by a kidney biopsy. A positive M spike led to a bone marrow biopsy, which showed 20% plasma cell neoplasm and confirmed a diagnosis of multiple myeloma. A corneal biopsy was performed prior to further organ system evaluation, and immunohistochemical staining returned positive results for κ light chains (Figure, B). No other organ systems were involved. The positive corneal biopsy results confirmed the end-organ involvement criteria to qualify for a bone marrow transplant. This case demonstrates ocular involvement being the determining factor to proceed with a bone marrow transplant for a patient with multiple myeloma and shows how bilateral corneal crystalline deposits should prompt immediate investigation for systemic disease.

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