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Abstract
Purpose
To report the optical coherence tomography (OCT) findings of three cases in various stages of juvenile-onset vitelliform macular dystrophy (Best disease).
Case summary
Medical records of six eyes from three patients diagnosed with Best disease were reviewed retrospectively. We evaluated the clinical features of the fundus, the electro-oculogram, and the optical coherence tomography (OCT) results. In the fundi of the three patients with Best disease, the characteristic stages of vitelliform, pseudohypopyon, and scrambled egg appearance were identified. Optical coherence tomography findings in the eyes of the patients with Best disease showed two types of outer retina-choroid complex (ORCC) changes, including splitting with intervening hyporeflective areas and elevation over hyporeflective area.
Conclusions
The OCT findings showed variable patterns according to the progression of Best disease. In the pseudohypopyon stage, both neurosensory detachment and retinal pigment epithelial detachment appearance were identified. The exact location of the resulting lesions seems to depend on the relative impediment of fluid movement caused by the mutation of bestrophin.
References
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Figure 1.
Case 1. Fundus photographs and optical coherence tomography (OCT) findings of the right eye (A, B) and the left eye (C, D) in a patient with Best disease. Each color-framed OCT finding represents a sectioned view of the retina along the axis of the corresponding color-coded line. (A) Fundus photograph shows a 1.5 disc diameter (DD)-sized homogeneous, round, elevated, well- demarcated, yellowish lesion. (B) Vertical and horizontal central macular OCT illustrates a diffuse thickened ORCC∗ elevation by underlying hyporeflective area. (C) Fundus photograph shows a 1.5 DD-sized round, elevated, yellowish lesion with an irregular margin. (D) Vertical and horizontal central macular OCT illustrates irregularly thickened ORCC∗ elevation.
∗ ORCC = outer retina-choroid complex.
Figure 2.
Case 2. Fundus photographs and optical coherence tomography (OCT) findings of the right eye (A, B) and the left eye (C, D) in a patient with Best disease. (A) Fundus photograph shows a 1 DD-sized round lesion within which a pseudohypopyon is forming a fluid level. (B) Vertical central macular OCT illustrates a splitting of ORCC∗ by hyporeflective area. The broadened, moderate reflective signal (arrowhead) corresponds to the accumulation of subretinal material. (C) Fundus photograph shows s 1 DD-sized round lesion within which a pseudohypopyon is forming a fluid level. (D) Vertical central macular OCT illustrates a splitting of ORCC∗ by hyporeflective area. The broadened, moderate reflective signal (arrowhead) corresponds to the accumulation of subretinal material.
∗ ORCC = outer retina-choroid complex.
Figure 3.
Case 3. Fundus photograph and optical coherence tomography (OCT) findings of the right eye (A, B) and the left eye (C, D) in a patient with Best disease. Each color-framed OCT finding represents a sectioned view of the retina along the axis of the corresponding color-coded line. (A) Fundus photograph shows a 1 DD-sized round, elevated, yellowish lesion. Inferior to this lesion, note a well demarcated 3 DD-sized RPE detachment with yellowish precipitate at the inferior margin (B) Vertical central macular OCT (green-coded) illustrates a well defined sub-RPE detachment and moderately reflective (seen as green) tissue corresponding to the yellow precipitate. Horizontal central macular OCT (blue-coded) shows a moderate reflective signal corresponding to the accumulation of sub-RPE material. (C) Fundus photograph shows a 1 DD-sized round, elevated, yellowish lesion with underlying submacular hemorrhage. There is subretinal hemorrhage over the inferior yellowish precipitate at the inferior margin of the 3 DD-sized RPE detachment. (D) Vertical central macular OCT (green-coded) illustrates a well-defined sub-RPE detachment and moderately reflective (seen as green) tissue corresponding to the yellow precipitate. Horizontal inferior OCT (white-coded) shows a moderate reflective signal corresponding to the accumulation of sub-RPE material.
Table 1.
Summary of visual acuity, stage of Best disease and ORCC pathology in OCT
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