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.
Miller K, Iuorno J, Couser NL. Corneal Crystals as an Initiating Factor for a Systemic Bone Marrow Transplant. JAMA Ophthalmol. 2021;139(6):e211539. doi:10.1001/jamaophthalmol.2021.1539
Artificial Intelligence Resource Center
Customize your JAMA Network experience by selecting one or more topics from the list below.