Related Experiment Video
Updated: Apr 21, 2026

Using Optical Coherence Tomography and Optokinetic Response As Structural and Functional Visual System Readouts in Mice and Rats
Published on: January 10, 2019
Fundus autofluorescence and optical coherence tomography findings in thiamine responsive megaloblastic anemia
Thomas Ach1, Rüdiger Kardorff, Klaus Rohrschneider
1*Department of Ophthalmology, University of Alabama at Birmingham, Birmingham, Alabama; †Department of Pediatrics, Marien-Hospital Wesel, Wesel, Germany; and ‡Department of Ophthalmology, University Hospital Heidelberg, Heidelberg, Germany.
Background:
To report ophthalmologic fundus autofluorescence and spectral domain optical coherence tomography findings in a patient with thiamine responsive megaloblastic anemia (TRMA).
Methods:
A 13-year-old girl with genetically proven TRMA was ophthalmologically (visual acuity, funduscopy, perimetry, electroretinogram) followed up over >5 years. Fundus imaging also included autofluorescence and spectral domain optical coherence tomography.
Results:
During a 5-year follow-up, visual acuity and visual field decreased, despite a special TRMA diet. Funduscopy revealed bull's eye appearance, whereas fundus autofluorescence showed central and peripheral hyperfluorescence and perifoveal hypofluorescence. Spectral domain optical coherence tomography revealed affected inner segment ellipsoid band and irregularities in the retinal pigment epithelium and choroidea.
Conclusion:
Autofluorescence and spectral domain optical coherence tomography findings in a patient with TRMA show retinitis pigmentosa-like retina, retinal pigment epithelium, and choroid alterations. These findings might progress even under special TRMA diet, indispensable to life. Ophthalmologist should consider TRMA in patients with deafness and ophthalmologic disorders.
Related Concept Videos
Imaging Studies VII: Vascular Imaging
Assessment of Diffusion and Perfusion
The Role of Diffusion in Respiration
Diffusion is the process by which molecules move from an area of higher concentration to an area of lower concentration. In the respiratory system, this...
Imaging Studies III: Computed Tomography

