Fundus autofluorescence and optical coherence tomography findings in thiamine responsive megaloblastic anemia.
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.


CONCLUSIONS
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.
*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.
Thomas
T
Ach
Rüdiger
R
Kardorff
Klaus
K
Rohrschneider
D000293:Adolescent; D000749:Anemia, Megaloblastic / Q000150:complications* / Q000175:diagnosis / Q000188:drug therapy; D004596:Electroretinography; D005260:Female; D005451:Fluorescein Angiography; D005654:Fundus Oculi; D006801:Humans; D012164:Retinal Diseases / Q000175:diagnosis* / Q000209:etiology / Q000503:physiopathology; D055213:Retinal Pigment Epithelium / Q000187:drug effects / Q000473:pathology*; D013831:Thiamine / Q000627:therapeutic use*; D041623:Tomography, Optical Coherence / Q000379:methods*; D014792:Visual Acuity; D058609:Visual Field Tests; D014803:Vitamin B Complex / Q000627:therapeutic use
D014803:Vitamin B Complex; D013831:Thiamine