LONG-TERM MULTIMODAL IMAGING OF OCULAR FINDINGS ASSOCIATED WITH THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA

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Abstract

Purpose:

To report on 5-year multimodal imaging of ocular findings in a patient with thiamine-responsive megaloblastic anemia.

Methods:

Observational case report.

Results:

A 20-year-old-man with a history of thiamine-responsive megaloblastic anemia demonstrated a symmetric bull's eye maculopathy. Spectral domain optical coherence tomography revealed disruption of the parafoveal ellipsoid zone, fundus autofluorescence demonstrated foveal hypoautofluorescence, and full-field electroretinogram testing revealed a decreased photopic and scotopic response consistent with cone–rod dystrophy. His best-corrected visual acuity remained stable over 5 years at 20/50 in the right eye and 20/40 in the left eye, and visual field testing remained stable over time.

Conclusion:

Ocular manifestations in thiamine-responsive megaloblastic anemia are uncommon and variable. In this case, multimodal imaging and electroretinogram findings are consistent with cone–rod degeneration. The patient is taking daily thiamine supplementation, and visual acuity, funduscopic examination, spectral domain optical coherence tomography, and autofluorescence remained stable over a 5-year period.

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