PATTERN DYSTROPHY-LIKE CHANGES ASSOCIATED WITH A VERY HIGH SERUM FERRITIN LEVEL IN β-THALASSEMIA MAJOR

To report a rare case of pattern dystrophy-like retinal changes in a young β-thalassemia major patient with a very high serum ferritin level.

Observational case report of a β-thalassemia major patient with bilateral pattern dystrophy-like retinal changes.

An 18-year-old man experienced blurring of vision in both eyes. Patient had a very high serum ferritin level and had a history of using various iron-chelating drugs. Funduscopy revealed bilateral widespread retinal pigment epithelium changes with macular involvement, which resembled pattern dystrophy-like changes. Fundus autofluorescence imaging showed extensive area of decreased autofluorescence signal interspersed with increased autofluorescence signals, whereas optical coherence tomography demonstrated macular retinal pigment epithelium thinning and interdigitation zone disruption corresponding to retinal pigment epithelium damage and atrophy.

Pattern dystrophy-like changes should be considered as a possible manifestation of retinal changes in patients with β-thalassemia major. Iron overload, which is indicated by a very high serum ferritin level, might have a role in the formation of this rare retinal manifestation in β-thalassemia major.