New optical coherence tomography fundus findings in a case of beta-thalassemia

Abstract

Patients with beta-thalassemia may present with an acquired diffuse elastic tissue defect due to degeneration of elastic tissue along with vaso-occlusive findings in the retinal microvasculature. Here we report the case of a patient with granular-like accumulation presenting as black sunburst lesions detected by optical coherence tomography (OCT). A 38-year-old man with beta-thalassemia intermedia associated with angioid streaks complained of deterioration of vision in both eyes. Funduscopic examination revealed small, round, hyperpigmented lesions bilaterally. During the early and late phases of fluorescein angiography, granular hyperfluoresence was present, associated with pigment decompensation and mottled-like hypofluorescence. The main OCT finding was the presence of granuloid-like accumulations at the retinal pigment epithelium level. Granule penetration was also noticed at the photoreceptor layer, while isolated granuloid-like accumulations were found in the inner layers of the macula and choroid. In this case, the new OCT finding was the granular-like hyperpigmented accumulations in the macula located at the level of the retinal pigment epithelium. To the best of our knowledge, our OCT findings show for the first time granuloid-like accumulations representing black sunburst lesions.

Spectral domain optical coherence tomography findings in Turkish sickle-cell disease and beta thalassemia major patients

“…The elastin degeneration in patients with B-TM may be the result of hypoxia, an oxidative process caused by the denaturation of Hb products and free iron 23 . Another study reported that these elastin defects may develop due to vaso-occlusive impairment in the retinal vasculature 4 …”

“…As a result of these transfusions, iron accumulates in the body, and chelation therapy is used to prevent the toxic effects of iron. Some ocular abnormalities have previously been reported due to chelation therapy toxicity or the nature of the disease that affects the microvasculature of systems 3, 4. In addition, there are some reports about the thinning of retinal nerve fiber layer (RNFL) and choroid from our country 5, 6.…”

Retinal abnormalities in β-thalassemia major

“…The iron overload caused by the transfusion therapy and the iron chelator-induced toxicity both increase the need for thalassemic patients to undergo regular ophthalmic evaluations. 9 ; 31 ; 56 ; 57 …”

“…Thalassemic patients may present with decreased visual acuity, color vision anomalies, night blindness, cataracts, visual field defects, and optic neuropathy. 9 ; 31 ; 36 ; 76 ; 84 ; 86 ; 87 The ophthalmic evaluation may include a dilated fundus examination (DFE), fluorescein dye retinal angiography, indocyanine green angiography, optical coherence tomography, and fundus autofluorescence. 40 ; 50 ; 53 ; 64 ; 76 ; 80 ; 91 ; 92 ; 98 Furthermore, monitoring of retinal function with ERG has been useful in β-TM patients who have nine or more years of transfusions unprotected by iron chelation therapy.…”

“…8 ; 31 Recent studies have evaluated β-TM children RNFL thickness values with SD-OCT, and determined that β-thalassemics have a thinner RNFL in all quadrants when compared to children with iron deficiency anemia and normal non-anemic children. 8 …”