Background
Methods
Subjects and clinical evaluation
Targeted exome sequencing
Sanger sequencing of implicated genes
RNA expression analysis by real-time quantitative PCR
Results
Clinical characterization
Affected family members | I-2 | II-1 | II-2 | |
---|---|---|---|---|
Currente age (years old) | 42 | 20 | 14 | |
Onset age (years old) | 28 | 18 | 11 | |
Gender | F | F | F | |
Clinical Features | ||||
Eye | Iris dysplasia (goniodysgenesis) | + | + | + |
Iris hypoplasia | + | + | + | |
Pupil deformation | + | + | + | |
Secondary Glaucoma | + | + | + | |
Polycoria | + | + | + | |
Corectopia (displaced pupils) | + | + | + | |
Shallow anterior chamber | + | + | + | |
Nose | Broad nasal bridge | +/− | + | + |
Teeth | Microdontia | + | + | + |
Abdomen | Umbilical defect (redundant periumbilical skin) | + | + | + |
Ocular examinations | I-2 | II-1 | II-2 | |||
---|---|---|---|---|---|---|
OD | OS | OD | OS | OD | OS | |
BCVA | NLP | 20/200 | 20/20 | 20/33 | 20/50 | 20/33 |
IOP (Goldman tonometry, mmHg) | N/A | 21a | 25 | 40 | 34 | 34 |
CCT (μm) | N/A | 618 | 562 | 579 | 560 | 564 |
C/D | N/A | 0.9 | 0.3 | 1.0 | 0.5 | 0.5 |
FHA: MD (dB) | x | x | −0.69 | −4.8 | −11.74 | x |
Horizontal corneal diameter (mm) | 7.5 | 9 | 9.5 | 9.5 |
b
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b
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Specular microscope (cells/m2) |
b
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b
| 1626 | 1636 |
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b
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Targeted exome sequencing and sanger validation
Sample | Targeted Gene | Targeted region (bp) | Targeted region coverage (%) | Targeted exon coverage (%) | Mean depth (×) | Mean depth > 30× (%) |
---|---|---|---|---|---|---|
II-1 | FOXC1, PITX2 | 2637 | 82.03 | 96 | 151.61 | 63.48 |