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.

Keywords: angioid streaks; beta-thalassemia; granuloid-like accumulation; optical coherence tomography; retinal pigment epithelium.

Figure 1

Color fundus photograph of the right eye in a patient aged 38 years with β-thalassemia. (A) Fluorescein angiography of the same eye. Hyperpigmented and hypopigmented lesions in the macula are evident. Notice also the presence of angioid streaks. (B) Vertical optical coherence tomography scan through the fovea. Notes: The thickness of the fovea is 157 μm. The photoreceptor inner layer/outer layer junction line is not visible. The granuloid-like appearance at the level of pigment epithelium is evident. Notice the irregular thickness of the retinal pigment epithelium and penetration of the granules into the photoreceptor layer in some places (arrow). Abbreviation: OD, right eye.

Figure 2

Left eye of the same patient. Color photograph of the fundus of the eye. (A) Early fluorescein angiography phase, depicting the hyperpigmented granuloid-like appearance of the macula. (B) Late fluorescein angiography phase, showing the angioid streaks and the hypopigmented and hyperpigmented lesions of the macula. (C) Vertical optical coherence tomography scan through the fovea. Notes: Notice the appearance of granuloid-like accumulations at the level of the retinal pigment epithelium and their penetration into the photoreceptor layer (arrow). The photoreceptor inner layer/outer layer junction line is absent. Thickness of the fovea is 152 μm. Abbreviation: OS, left eye.