PMC6352371_01
Pedigree structure of the studied Brazilian family. Examined patients include proband (II-7), siblings (II-1, II-2, II-3, II-5, and II-8), niece (III-1), and daughter (III-2)
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Fig1
The proband of the present study is a 54-year-old woman (Fig. 1, II-7), who came for a routine ophthalmological evaluation.
Color fundus photography (a and b), fundus autofluorescence (c and d), fluorescein angiography (e and f) and optical coherence tomography (g and h) of the proband (II-7) in the "pseudohypopyon" stage. The yellowish vitelliform material displaced inferiorly and a thin ring of lipofuscin accumulation is seen as a hyperautofluorescent margin of the neurosensorial retinal detachment. The central area is hypoautofluorescent and hyperfluorescent due to pigment epithelial atrophy (window defect)
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Fig2
The proband of the present study is a 54-year-old woman (Fig. 1, II-7), who came for a routine ophthalmological evaluation. Fundoscopy revealed bilateral macular yellowish deposits (Fig. 2a, b). FAF showed a small rounded subfoveal hyperautofluorescent material, surrounded by hypoautofluorescence corresponding to RPE atrophy and a circular hyper-autofluorescence ring in both eyes (Fig. 2c, d). FA and OCT evidenced serous macular detachment and deposits of foveal round-shaped subretinal material suggestive of lipofuscin and debris of photoreceptors in both eyes (Fig. 2e-h).
Color fundus photography (a and b) and optical coherence tomography (c and d) of the patient II-1 in the "atrophic" stage. Right and left fovea are slightly yellowish due to retinal pigment epithelium atrophy and residual dispersed subretinal fibrotic material. Optical coherence tomography reveals diffuse loss of photoreceptor in both eyes, but with right eye foveolar sparing
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Fig3
The proband of the present study is a 54-year-old woman (Fig. 1, II-7), who came for a routine ophthalmological evaluation. Table 1 and Figs. 3, 4, 5, 6, 7 and 8. The EOG of patient III-1 also showed a reduced Arden ratio in both eyes, reinforcing the diagnosis of BVMD.
Red-free light fundus photography (a and b) and fluorescein angiography (c and d) of patient II-2 in the "atrophic" stage. Red-free frames show the central white rounded macular lesion. Fluorescein angiography shows foveal hyperfluorescence without leakage due to due to pigment epithelial atrophy (window defect)
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Fig4
The proband of the present study is a 54-year-old woman (Fig. 1, II-7), who came for a routine ophthalmological evaluation. Table 1 and Figs. 3, 4, 5, 6, 7 and 8. The EOG of patient III-1 also showed a reduced Arden ratio in both eyes, reinforcing the diagnosis of BVMD.
Optical coherence tomography (a and b) of the patient II-3 in the "vitelliruptive" stage showing neurosensorial retinal detachment, and severe photoreceptor outer segment layer and retinal pigment epithelium atrophy
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Fig5
The proband of the present study is a 54-year-old woman (Fig. 1, II-7), who came for a routine ophthalmological evaluation. Table 1 and Figs. 3, 4, 5, 6, 7 and 8. The EOG of patient III-1 also showed a reduced Arden ratio in both eyes, reinforcing the diagnosis of BVMD.
Color fundus photography (a and b), fundus autofluorescence (c and d), fluorescein angiography (e and f) and optical coherence tomography (g and h) of the patient II-5 in the "atrophic" stage. Both foveal regions are yellowish due to retinal pigment epithelium atrophy, mainly in the right eye, seen as a hypoautofluorescent and hyperfluorescent central region (window defect). There is a marked loss of outer retinal layers, especially in the right fovea
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Fig6
The proband of the present study is a 54-year-old woman (Fig. 1, II-7), who came for a routine ophthalmological evaluation. Table 1 and Figs. 3, 4, 5, 6, 7 and 8. The EOG of patient III-1 also showed a reduced Arden ratio in both eyes, reinforcing the diagnosis of BVMD.
Color fundus photography (a and b), fundus autofluorescence (c and d), and optical coherence tomography (e and f) of the patient III-1 in the "vitelliruptive" stage. The yellowish vitelliform material is seen as a hyperautofluorescent lesion at the fovea and periphery of the retinal detachment. An early foveal disciform scar from fibrovascular proliferation is evidenced as a gray-white lesion in the left eye
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Fig7
The proband of the present study is a 54-year-old woman (Fig. 1, II-7), who came for a routine ophthalmological evaluation. Table 1 and Figs. 3, 4, 5, 6, 7 and 8. The EOG of patient III-1 also showed a reduced Arden ratio in both eyes, reinforcing the diagnosis of BVMD.
Color fundus photography (a and b), fundus autofluorescence (c and d), and optical coherence tomography (e and f) of the patient III-2 in the "pseudohypopyon" stage. A ring of yellowish hyperautofluorescent vitelliform material accumulation is seen in the margin of the neurosensorial retinal detachment, with inferiorly lipofuscin deposit
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Fig8
Table 1 and Figs. 3, 4, 5, 6, 7 and 8. The EOG of patient III-1 also showed a reduced Arden ratio in both eyes, reinforcing the diagnosis of BVMD.