PMC5892333_01
Fundus photographs. a, b Images from a 54-year-old man (case 1) with BVMD which demonstrate elevated optic nerves with mild blurring of the margins OU and focal areas of subretinal deposits along the vascular arcades OU as well as macular atrophy OS. c, d Images from the 22-year-old son of case 1 (case 2), also with BVMD, demonstrating elevated optic nerves with mild blurring of the margins and atrophic maculas OU with signs of old regressed CNVM and a fibrous scar extending from the fovea to the ONH OS. e, f Images from the 16-year-old daughter of case 1 (case 3), demonstrating elevated optic nerves and moderate blurring of the margins with a vitelliform macular lesion OS. g, h Images from a 22-year-old man (case 4), demonstrating an elevated ONH with blurred margins and a severely glaucomatous optic nerve OS. The patient also has atrophic maculas OU with a dilated and tortuous draining vein with chorioretinal anastomosis thought to be secondary to an old CNVM from his vitelliform lesion OS. i, j Images from a 38-year-old woman (case 5), demonstrating elevated optic nerves with blurred margins OU, a subfoveal fibrotic scar OD, and macular RPE atrophy OS. BVMD, Best vitelliform macular dystrophy; ONH, optic nerve head; CNVM, choroidal neovascular membrane; RPE, retinal pigment epithelium.
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PMC5892333_05_cop-0009-0076-g01.jpg
F1
OD and macular RPE atrophy OS (Fig. 1i, j). OCT showed subfoveal hyperreflective lesions consistent with old regressed CNVM, and stable subretinal fluid OU.
Fundus autofluorescence photographs. a, b Images from a 54-year-old man (case 1), demonstrating ONH drusen OU and mottled hypoautofluorescence in both maculas and in areas along the vascular arcades corresponding to yellow subretinal deposits OU (see Fig. 1a, b). c, d Images from a 16-year-old female (case 2), demonstrating ONH drusen OU with central hypo-/hyperautofluorescence centrally OS. e, f Images from a 22-year-old man (case 4), demonstrating ONH drusen OU and mottled hypoautofluorescence in both maculas. g, h Images from a 38-year-old woman, demonstrating ONH drusen and macular hypoautofluorescence OU. ONH, optic nerve head.
cop-0009-0076-g02.jpg
PMC5892333_05_cop-0009-0076-g02.jpg
F2
FAF demonstrated ONH drusen and macular hypoautofluorescence OU (Fig. 2g, h).
PMC5892333_02
Fundus photographs. a, b Images from a 54-year-old man (case 1) with BVMD which demonstrate elevated optic nerves with mild blurring of the margins OU and focal areas of subretinal deposits along the vascular arcades OU as well as macular atrophy OS. c, d Images from the 22-year-old son of case 1 (case 2), also with BVMD, demonstrating elevated optic nerves with mild blurring of the margins and atrophic maculas OU with signs of old regressed CNVM and a fibrous scar extending from the fovea to the ONH OS. e, f Images from the 16-year-old daughter of case 1 (case 3), demonstrating elevated optic nerves and moderate blurring of the margins with a vitelliform macular lesion OS. g, h Images from a 22-year-old man (case 4), demonstrating an elevated ONH with blurred margins and a severely glaucomatous optic nerve OS. The patient also has atrophic maculas OU with a dilated and tortuous draining vein with chorioretinal anastomosis thought to be secondary to an old CNVM from his vitelliform lesion OS. i, j Images from a 38-year-old woman (case 5), demonstrating elevated optic nerves with blurred margins OU, a subfoveal fibrotic scar OD, and macular RPE atrophy OS. BVMD, Best vitelliform macular dystrophy; ONH, optic nerve head; CNVM, choroidal neovascular membrane; RPE, retinal pigment epithelium.
cop-0009-0076-g01.jpg
PMC5892333_05_cop-0009-0076-g01.jpg
F1
OD and macular RPE atrophy OS (Fig. 1i, j). OCT showed subfoveal hyperreflective lesions consistent with old regressed CNVM, and stable subretinal fluid OU.
PMC5892333_03
Fundus photographs. a, b Images from a 54-year-old man (case 1) with BVMD which demonstrate elevated optic nerves with mild blurring of the margins OU and focal areas of subretinal deposits along the vascular arcades OU as well as macular atrophy OS. c, d Images from the 22-year-old son of case 1 (case 2), also with BVMD, demonstrating elevated optic nerves with mild blurring of the margins and atrophic maculas OU with signs of old regressed CNVM and a fibrous scar extending from the fovea to the ONH OS. e, f Images from the 16-year-old daughter of case 1 (case 3), demonstrating elevated optic nerves and moderate blurring of the margins with a vitelliform macular lesion OS. g, h Images from a 22-year-old man (case 4), demonstrating an elevated ONH with blurred margins and a severely glaucomatous optic nerve OS. The patient also has atrophic maculas OU with a dilated and tortuous draining vein with chorioretinal anastomosis thought to be secondary to an old CNVM from his vitelliform lesion OS. i, j Images from a 38-year-old woman (case 5), demonstrating elevated optic nerves with blurred margins OU, a subfoveal fibrotic scar OD, and macular RPE atrophy OS. BVMD, Best vitelliform macular dystrophy; ONH, optic nerve head; CNVM, choroidal neovascular membrane; RPE, retinal pigment epithelium.
cop-0009-0076-g01.jpg
PMC5892333_05_cop-0009-0076-g01.jpg
F1
OD and macular RPE atrophy OS (Fig. 1i, j). OCT showed subfoveal hyperreflective lesions consistent with old regressed CNVM, and stable subretinal fluid OU.
Fundus autofluorescence photographs. a, b Images from a 54-year-old man (case 1), demonstrating ONH drusen OU and mottled hypoautofluorescence in both maculas and in areas along the vascular arcades corresponding to yellow subretinal deposits OU (see Fig. 1a, b). c, d Images from a 16-year-old female (case 2), demonstrating ONH drusen OU with central hypo-/hyperautofluorescence centrally OS. e, f Images from a 22-year-old man (case 4), demonstrating ONH drusen OU and mottled hypoautofluorescence in both maculas. g, h Images from a 38-year-old woman, demonstrating ONH drusen and macular hypoautofluorescence OU. ONH, optic nerve head.
cop-0009-0076-g02.jpg
PMC5892333_05_cop-0009-0076-g02.jpg
F2
FAF demonstrated ONH drusen and macular hypoautofluorescence OU (Fig. 2g, h).
B-scans demonstrating calcification and posterior shadowing from ONH drusen in a 16-year-old girl (a; case 3, OD), a 22-year-old man (b, c; case 4, OD and OS, respectively), and a 38-year-old woman (d, e; case 5, OD and OS, respectively). ONH, optic nerve head.
cop-0009-0076-g03.jpg
PMC5892333_05_cop-0009-0076-g03.jpg
F3
A B-scan demonstrated ONH drusen OU (Fig. 3d, e).
PMC5892333_04
Fundus photographs. a, b Images from a 54-year-old man (case 1) with BVMD which demonstrate elevated optic nerves with mild blurring of the margins OU and focal areas of subretinal deposits along the vascular arcades OU as well as macular atrophy OS. c, d Images from the 22-year-old son of case 1 (case 2), also with BVMD, demonstrating elevated optic nerves with mild blurring of the margins and atrophic maculas OU with signs of old regressed CNVM and a fibrous scar extending from the fovea to the ONH OS. e, f Images from the 16-year-old daughter of case 1 (case 3), demonstrating elevated optic nerves and moderate blurring of the margins with a vitelliform macular lesion OS. g, h Images from a 22-year-old man (case 4), demonstrating an elevated ONH with blurred margins and a severely glaucomatous optic nerve OS. The patient also has atrophic maculas OU with a dilated and tortuous draining vein with chorioretinal anastomosis thought to be secondary to an old CNVM from his vitelliform lesion OS. i, j Images from a 38-year-old woman (case 5), demonstrating elevated optic nerves with blurred margins OU, a subfoveal fibrotic scar OD, and macular RPE atrophy OS. BVMD, Best vitelliform macular dystrophy; ONH, optic nerve head; CNVM, choroidal neovascular membrane; RPE, retinal pigment epithelium.
cop-0009-0076-g01.jpg
PMC5892333_05_cop-0009-0076-g01.jpg
F1
OD and macular RPE atrophy OS (Fig. 1i, j). OCT showed subfoveal hyperreflective lesions consistent with old regressed CNVM, and stable subretinal fluid OU.
Fundus autofluorescence photographs. a, b Images from a 54-year-old man (case 1), demonstrating ONH drusen OU and mottled hypoautofluorescence in both maculas and in areas along the vascular arcades corresponding to yellow subretinal deposits OU (see Fig. 1a, b). c, d Images from a 16-year-old female (case 2), demonstrating ONH drusen OU with central hypo-/hyperautofluorescence centrally OS. e, f Images from a 22-year-old man (case 4), demonstrating ONH drusen OU and mottled hypoautofluorescence in both maculas. g, h Images from a 38-year-old woman, demonstrating ONH drusen and macular hypoautofluorescence OU. ONH, optic nerve head.
cop-0009-0076-g02.jpg
PMC5892333_05_cop-0009-0076-g02.jpg
F2
FAF demonstrated ONH drusen and macular hypoautofluorescence OU (Fig. 2g, h).
B-scans demonstrating calcification and posterior shadowing from ONH drusen in a 16-year-old girl (a; case 3, OD), a 22-year-old man (b, c; case 4, OD and OS, respectively), and a 38-year-old woman (d, e; case 5, OD and OS, respectively). ONH, optic nerve head.
cop-0009-0076-g03.jpg
PMC5892333_05_cop-0009-0076-g03.jpg
F3
A B-scan demonstrated ONH drusen OU (Fig. 3d, e).
PMC5892333_05
Fundus photographs. a, b Images from a 54-year-old man (case 1) with BVMD which demonstrate elevated optic nerves with mild blurring of the margins OU and focal areas of subretinal deposits along the vascular arcades OU as well as macular atrophy OS. c, d Images from the 22-year-old son of case 1 (case 2), also with BVMD, demonstrating elevated optic nerves with mild blurring of the margins and atrophic maculas OU with signs of old regressed CNVM and a fibrous scar extending from the fovea to the ONH OS. e, f Images from the 16-year-old daughter of case 1 (case 3), demonstrating elevated optic nerves and moderate blurring of the margins with a vitelliform macular lesion OS. g, h Images from a 22-year-old man (case 4), demonstrating an elevated ONH with blurred margins and a severely glaucomatous optic nerve OS. The patient also has atrophic maculas OU with a dilated and tortuous draining vein with chorioretinal anastomosis thought to be secondary to an old CNVM from his vitelliform lesion OS. i, j Images from a 38-year-old woman (case 5), demonstrating elevated optic nerves with blurred margins OU, a subfoveal fibrotic scar OD, and macular RPE atrophy OS. BVMD, Best vitelliform macular dystrophy; ONH, optic nerve head; CNVM, choroidal neovascular membrane; RPE, retinal pigment epithelium.
cop-0009-0076-g01.jpg
PMC5892333_05_cop-0009-0076-g01.jpg
F1
OD and macular RPE atrophy OS (Fig. 1i, j). OCT showed subfoveal hyperreflective lesions consistent with old regressed CNVM, and stable subretinal fluid OU.
Fundus autofluorescence photographs. a, b Images from a 54-year-old man (case 1), demonstrating ONH drusen OU and mottled hypoautofluorescence in both maculas and in areas along the vascular arcades corresponding to yellow subretinal deposits OU (see Fig. 1a, b). c, d Images from a 16-year-old female (case 2), demonstrating ONH drusen OU with central hypo-/hyperautofluorescence centrally OS. e, f Images from a 22-year-old man (case 4), demonstrating ONH drusen OU and mottled hypoautofluorescence in both maculas. g, h Images from a 38-year-old woman, demonstrating ONH drusen and macular hypoautofluorescence OU. ONH, optic nerve head.
cop-0009-0076-g02.jpg
PMC5892333_05_cop-0009-0076-g02.jpg
F2
FAF demonstrated ONH drusen and macular hypoautofluorescence OU (Fig. 2g, h).
B-scans demonstrating calcification and posterior shadowing from ONH drusen in a 16-year-old girl (a; case 3, OD), a 22-year-old man (b, c; case 4, OD and OS, respectively), and a 38-year-old woman (d, e; case 5, OD and OS, respectively). ONH, optic nerve head.
cop-0009-0076-g03.jpg
PMC5892333_05_cop-0009-0076-g03.jpg
F3
A B-scan demonstrated ONH drusen OU (Fig. 3d, e).