PMC3102021_01
Anterior segment photograph of the right eye shows polycoria, adhesion of iris strands with peripheral cornea, and posterior emblyotoxon.
mv-v17-1231-f1.jpg
PMC3102021_01_mv-v17-1231-f1.jpg
f1
Slit lamp examination of the right eye revealed polycoria, adhesion of iris strands to the peripheral cornea, and posterior embryotoxon. (Figure 1) Examination of the left eye revealed a small iris stub resembling aniridia, and a similar appearance was noted on an old photograph taken when she was 3 months old (Figure 2 and Figure 3).Corneal pachymetry was 664 microns in the right and 683 microns in the left.
Anterior segment photograph of the left eye shows aniridia.
mv-v17-1231-f2.jpg
PMC3102021_01_mv-v17-1231-f2.jpg
f2
Slit lamp examination of the right eye revealed polycoria, adhesion of iris strands to the peripheral cornea, and posterior embryotoxon. (Figure 1) Examination of the left eye revealed a small iris stub resembling aniridia, and a similar appearance was noted on an old photograph taken when she was 3 months old (Figure 2 and Figure 3).Corneal pachymetry was 664 microns in the right and 683 microns in the left.
Old photograph of patient when she was 3 months old shows similar anterior segment appearance.
mv-v17-1231-f3.jpg
PMC3102021_01_mv-v17-1231-f3.jpg
f3
Slit lamp examination of the right eye revealed polycoria, adhesion of iris strands to the peripheral cornea, and posterior embryotoxon. (Figure 1) Examination of the left eye revealed a small iris stub resembling aniridia, and a similar appearance was noted on an old photograph taken when she was 3 months old (Figure 2 and Figure 3).Corneal pachymetry was 664 microns in the right and 683 microns in the left.
Optic disc photograph of the right eye shows normal neural rim.
mv-v17-1231-f4.jpg
PMC3102021_01_mv-v17-1231-f4.jpg
f4
Optic disc photograph of the left eye shows severe loss of neural rim.
mv-v17-1231-f5.jpg
PMC3102021_01_mv-v17-1231-f5.jpg
f5
Figure 5). Further physical examination revealed a flat midface, hypodontia with lack of an upper incisor, and redundant periumbilical skin (Figure 6 and Figure 7).
Facial photograph of patient shows flat midface and hypodontia lacking of an upper incisor.
mv-v17-1231-f6.jpg
PMC3102021_01_mv-v17-1231-f6.jpg
f6
Figure 5). Further physical examination revealed a flat midface, hypodontia with lack of an upper incisor, and redundant periumbilical skin (Figure 6 and Figure 7).
Abdominal photograph of patient shows redundant periumbilical skin.
mv-v17-1231-f7.jpg
PMC3102021_01_mv-v17-1231-f7.jpg
f7
Figure 5). Further physical examination revealed a flat midface, hypodontia with lack of an upper incisor, and redundant periumbilical skin (Figure 6 and Figure 7).
Sequencing analysis of the Axenfeld-Rieger syndrome patient's PITX2 gene with the C>T mutation.
mv-v17-1231-f8.jpg
PMC3102021_01_mv-v17-1231-f8.jpg
f8
This mutation is denoted c.199C>T at the cDNA level or p.Gln67Stop (or Q67X) at the protein level (Figure 8).