PMC3811992_01
Ophthalmic and genetic analysis of a family with Wagner syndrome. A: Anterior segment photograph of the proband's right eye (individual II:1) showing the synechiae between the intraocular lens and the iris, a temporally subluxated intraocular lens (IOL) as well as anterior and posterior capsular fibrosis. B: Pedigree of the family with Wagner syndrome. The arrow designates the proband, and the asterisks point to the family members examined and sequenced at our center. The symbol "M/+" designates patients with the mutation. C: Normal sequence chromatogram of the versican (VCAN) gene. D: Forward and reverse mutated sequence chromatograms (individual II:1) of the VCAN gene shows a heterozygous T to A substitution (red arrow with the letter "M") at the sixth base of the splice acceptor site of intron 7 (c.4004-6T>A). Note that for all patients the mutated forward sequence was of poorer quality that of the reverse sequence.
mv-v19-2040-f1.jpg
PMC3811992_03_mv-v19-2040-f1.jpg
f1
Finally, the only nucleotide variation corresponding to a new and unique change, not referenced in the dbSNP, not identified in control samples, and found to segregate with the disease status in this family was the heterozygous T to A substitution at the sixth base of the splice acceptor site of intron 7 of VCAN, c.4004-6T>A (Figure 1D).
Composite fundus photograph showing several aspects of the avascular vitreous veil (arrows and white box), a hallmark feature of Wagner syndrome. A: The color fundus photograph of the proband's right eye (individual II:1) shows a well-defined circumferential veil. B: Red-free fundus photograph of the proband's left eye (Individual II:1) shows the vitreous veil as well as bright reflective areas corresponding to peripheral chorioretinal atrophy. C: Photograph of the proband's mother left eye (individual I:2) also shows a barely detectable veil. D: Enlargement of the area within the box shows the veil firmly attached to the underlying retina. E: Photograph of the proband's sister right eye (individual II:5) shows a barely detectable veil more easily seen in the inferotemporal retinal periphery.
mv-v19-2040-f2.jpg
PMC3811992_03_mv-v19-2040-f2.jpg
f2
The dilated fundus examination revealed an optically empty vitreous with a condensed vitreous cortex detached from the underlying retina at the level of the equator, more visible in the inferior and temporal quadrant (Figure 2E).
PMC3811992_02
Composite fundus photograph showing several aspects of the avascular vitreous veil (arrows and white box), a hallmark feature of Wagner syndrome. A: The color fundus photograph of the proband's right eye (individual II:1) shows a well-defined circumferential veil. B: Red-free fundus photograph of the proband's left eye (Individual II:1) shows the vitreous veil as well as bright reflective areas corresponding to peripheral chorioretinal atrophy. C: Photograph of the proband's mother left eye (individual I:2) also shows a barely detectable veil. D: Enlargement of the area within the box shows the veil firmly attached to the underlying retina. E: Photograph of the proband's sister right eye (individual II:5) shows a barely detectable veil more easily seen in the inferotemporal retinal periphery.
mv-v19-2040-f2.jpg
PMC3811992_03_mv-v19-2040-f2.jpg
f2
The dilated fundus examination revealed an optically empty vitreous with a condensed vitreous cortex detached from the underlying retina at the level of the equator, more visible in the inferior and temporal quadrant (Figure 2E).
PMC3811992_03
Ophthalmic and genetic analysis of a family with Wagner syndrome. A: Anterior segment photograph of the proband's right eye (individual II:1) showing the synechiae between the intraocular lens and the iris, a temporally subluxated intraocular lens (IOL) as well as anterior and posterior capsular fibrosis. B: Pedigree of the family with Wagner syndrome. The arrow designates the proband, and the asterisks point to the family members examined and sequenced at our center. The symbol "M/+" designates patients with the mutation. C: Normal sequence chromatogram of the versican (VCAN) gene. D: Forward and reverse mutated sequence chromatograms (individual II:1) of the VCAN gene shows a heterozygous T to A substitution (red arrow with the letter "M") at the sixth base of the splice acceptor site of intron 7 (c.4004-6T>A). Note that for all patients the mutated forward sequence was of poorer quality that of the reverse sequence.
mv-v19-2040-f1.jpg
PMC3811992_03_mv-v19-2040-f1.jpg
f1
Finally, the only nucleotide variation corresponding to a new and unique change, not referenced in the dbSNP, not identified in control samples, and found to segregate with the disease status in this family was the heterozygous T to A substitution at the sixth base of the splice acceptor site of intron 7 of VCAN, c.4004-6T>A (Figure 1D).
Composite fundus photograph showing several aspects of the avascular vitreous veil (arrows and white box), a hallmark feature of Wagner syndrome. A: The color fundus photograph of the proband's right eye (individual II:1) shows a well-defined circumferential veil. B: Red-free fundus photograph of the proband's left eye (Individual II:1) shows the vitreous veil as well as bright reflective areas corresponding to peripheral chorioretinal atrophy. C: Photograph of the proband's mother left eye (individual I:2) also shows a barely detectable veil. D: Enlargement of the area within the box shows the veil firmly attached to the underlying retina. E: Photograph of the proband's sister right eye (individual II:5) shows a barely detectable veil more easily seen in the inferotemporal retinal periphery.
mv-v19-2040-f2.jpg
PMC3811992_03_mv-v19-2040-f2.jpg
f2
The dilated fundus examination revealed an optically empty vitreous with a condensed vitreous cortex detached from the underlying retina at the level of the equator, more visible in the inferior and temporal quadrant (Figure 2E).