PMC3834600_01
Color fundus photographs , fundus autofluorescence images, and optical coherence tomography images of cases 1, 2, and 3. A: Case 1-A mild pigment atrophy in the central macula and hyperpigmentation nasal to the fovea. B: Speckled hypoautofluorescence in the macular region. C: Irregular reflectivity at the level of the outer retinal layers. D: Case 2-Subtle pigment changes at the center of the macula. E: Normal fundus autofluorescence (FAF). F: Case 3-The retina appears normal except for a central area of dense hyperpigmentation. G: A ring of hyperautofluorescence surrounding a central bull's eye lesion. H: An elevated lesion is present at the center of the fovea. There is distortion of the retinal layers over and adjacent to the lesion.
mv-v19-2250-f2.jpg
PMC3834600_03_mv-v19-2250-f2.jpg
f2
Retinal examination showed bilateral dense hyperpigmentation at the center of the macula (Figure 2F). FAF imaging showed a central region of reduced AF surrounded by alternating rings of increased and reduced AF (Figure 2G). SD-OCT showed a localized dome-shaped foveal elevation in both eyes involving the RPE layer, which also had an uneven reflectivity (Figure 2H).
Goldmann visual fields of both eyes of each patient using target sizes: I4e, III4e, and V4e. The left-hand column shows the fields of the left eye, while the right-hand column illustrates the fields of the right eye. Case 1 has a relatively large central scotoma; the left eye shows smaller paracentral islands of sensitivity loss. Case 2 has normal fields. Case 3 has a left central and paracentral relative scotomata to static stimuli only. The right eye field shows a small relative scotoma.
mv-v19-2250-f3.jpg
PMC3834600_03_mv-v19-2250-f3.jpg
f3
Visual field testing (Figure 3) showed a localized central region of reduced sensitivity to static stimuli in the left eye.
Electroretinograms of all cases. Bottom row: Electroretinograms (ERGs) of a control subject. No significant interocular asymmetry was present and data are only shown from one eye of each patient. DA 0.01: dark-adapted 0.01 cd.s.m-2; DA 11.0: dark-adapted 11.0 cd.s.m-2; LA 30 Hz: light-adapted 3.0 cd.s.m-2, 30 Hz flicker; LA 3.0: light-adapted 3.0 cd.s.m-2; PERG: pattern ERG.
mv-v19-2250-f4.jpg
PMC3834600_03_mv-v19-2250-f4.jpg
f4
Full-field ERGs showed a cone-rod pattern of generalized dysfunction with PERG evidence of severe macular involvement (Figure 4).
PMC3834600_02
Color fundus photographs , fundus autofluorescence images, and optical coherence tomography images of cases 1, 2, and 3. A: Case 1-A mild pigment atrophy in the central macula and hyperpigmentation nasal to the fovea. B: Speckled hypoautofluorescence in the macular region. C: Irregular reflectivity at the level of the outer retinal layers. D: Case 2-Subtle pigment changes at the center of the macula. E: Normal fundus autofluorescence (FAF). F: Case 3-The retina appears normal except for a central area of dense hyperpigmentation. G: A ring of hyperautofluorescence surrounding a central bull's eye lesion. H: An elevated lesion is present at the center of the fovea. There is distortion of the retinal layers over and adjacent to the lesion.
mv-v19-2250-f2.jpg
PMC3834600_03_mv-v19-2250-f2.jpg
f2
Retinal examination showed bilateral dense hyperpigmentation at the center of the macula (Figure 2F). FAF imaging showed a central region of reduced AF surrounded by alternating rings of increased and reduced AF (Figure 2G). SD-OCT showed a localized dome-shaped foveal elevation in both eyes involving the RPE layer, which also had an uneven reflectivity (Figure 2H).
Goldmann visual fields of both eyes of each patient using target sizes: I4e, III4e, and V4e. The left-hand column shows the fields of the left eye, while the right-hand column illustrates the fields of the right eye. Case 1 has a relatively large central scotoma; the left eye shows smaller paracentral islands of sensitivity loss. Case 2 has normal fields. Case 3 has a left central and paracentral relative scotomata to static stimuli only. The right eye field shows a small relative scotoma.
mv-v19-2250-f3.jpg
PMC3834600_03_mv-v19-2250-f3.jpg
f3
Visual field testing (Figure 3) showed a localized central region of reduced sensitivity to static stimuli in the left eye.
Electroretinograms of all cases. Bottom row: Electroretinograms (ERGs) of a control subject. No significant interocular asymmetry was present and data are only shown from one eye of each patient. DA 0.01: dark-adapted 0.01 cd.s.m-2; DA 11.0: dark-adapted 11.0 cd.s.m-2; LA 30 Hz: light-adapted 3.0 cd.s.m-2, 30 Hz flicker; LA 3.0: light-adapted 3.0 cd.s.m-2; PERG: pattern ERG.
mv-v19-2250-f4.jpg
PMC3834600_03_mv-v19-2250-f4.jpg
f4
Full-field ERGs showed a cone-rod pattern of generalized dysfunction with PERG evidence of severe macular involvement (Figure 4).
PMC3834600_03
Color fundus photographs , fundus autofluorescence images, and optical coherence tomography images of cases 1, 2, and 3. A: Case 1-A mild pigment atrophy in the central macula and hyperpigmentation nasal to the fovea. B: Speckled hypoautofluorescence in the macular region. C: Irregular reflectivity at the level of the outer retinal layers. D: Case 2-Subtle pigment changes at the center of the macula. E: Normal fundus autofluorescence (FAF). F: Case 3-The retina appears normal except for a central area of dense hyperpigmentation. G: A ring of hyperautofluorescence surrounding a central bull's eye lesion. H: An elevated lesion is present at the center of the fovea. There is distortion of the retinal layers over and adjacent to the lesion.
mv-v19-2250-f2.jpg
PMC3834600_03_mv-v19-2250-f2.jpg
f2
Retinal examination showed bilateral dense hyperpigmentation at the center of the macula (Figure 2F). FAF imaging showed a central region of reduced AF surrounded by alternating rings of increased and reduced AF (Figure 2G). SD-OCT showed a localized dome-shaped foveal elevation in both eyes involving the RPE layer, which also had an uneven reflectivity (Figure 2H).
Goldmann visual fields of both eyes of each patient using target sizes: I4e, III4e, and V4e. The left-hand column shows the fields of the left eye, while the right-hand column illustrates the fields of the right eye. Case 1 has a relatively large central scotoma; the left eye shows smaller paracentral islands of sensitivity loss. Case 2 has normal fields. Case 3 has a left central and paracentral relative scotomata to static stimuli only. The right eye field shows a small relative scotoma.
mv-v19-2250-f3.jpg
PMC3834600_03_mv-v19-2250-f3.jpg
f3
Visual field testing (Figure 3) showed a localized central region of reduced sensitivity to static stimuli in the left eye.
Electroretinograms of all cases. Bottom row: Electroretinograms (ERGs) of a control subject. No significant interocular asymmetry was present and data are only shown from one eye of each patient. DA 0.01: dark-adapted 0.01 cd.s.m-2; DA 11.0: dark-adapted 11.0 cd.s.m-2; LA 30 Hz: light-adapted 3.0 cd.s.m-2, 30 Hz flicker; LA 3.0: light-adapted 3.0 cd.s.m-2; PERG: pattern ERG.
mv-v19-2250-f4.jpg
PMC3834600_03_mv-v19-2250-f4.jpg
f4
Full-field ERGs showed a cone-rod pattern of generalized dysfunction with PERG evidence of severe macular involvement (Figure 4).