A 25-year-old male of Turkish descent presented for ophthalmic assessment. At the age of 8, he was diagnosed with thiamine-responsive megaloblastic anaemia (TRMA) confirmed by genetic testing. Besides the classical triad (megaloblastic anaemia, diabetes, sensorineural deafness) [1, 2], he was of short stature, had sick sinus syndrome, atrial flutter, and a history of stroke and seizures in infancy. Best-corrected visual acuity was 20/200 bilaterally. Ophthalmic examination showed bilateral cataract (A) and macular coloboma (B-D), the latter corresponding to an area of reduced fundus autofluorescence surrounded by a halo; over the observation period of 11 years no progression of these retinal alterations was observed. So far, only one TRMA-patient with cataract and choroidal coloboma has been reported, but without retinal imaging or further descriptions [3]. While optic atrophy and retinal dystrophy appear to be leading ophthalmic pathologies in TRMA [4, 5], we highlight that cataract and chorioretinal coloboma are features to be considered.
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Substantial contributions to the design and interpretation of the work: all authors. Data analysis & acquisition: DYS, JB. Drafting the work: DYS, JB. Revising the work critically for important intellectual content: MS Final approval of the version to be published: all authors.
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Yang-Seeger, D., Spitzer, M.S. & Birtel, J. Bilateral cataract and macular coloboma in thiamine-responsive megaloblastic anemia. Eye (2025). https://doi.org/10.1038/s41433-025-03713-5
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DOI: https://doi.org/10.1038/s41433-025-03713-5
