TABLE 5.
Extraocular Abnormalities on Systemic Diagnostic Testing in Patients With Uveal Coloboma
| Abnormal Finding | n/N (%) |
|---|---|
| Cardiac abnormalities | 10/19 (53) |
| VSD | 3 |
| ASD | 2 |
| Mitral valve prolapse | 1 |
| PFO | 1 |
| ASD/PDA | 1 |
| Pulmonary stenosis/PFO | 1 |
| ASD/VSD | 1 |
| Urogenital abnormalities | 5/72 (7) |
| Bilateral hydronephrosis | 1 |
| Small left kidney with multiple small cysts | 1 |
| Slightly small left kidney | 1 |
| Cyst in left kidney | 1 |
| Missing left kidney | 1 |
| Skeletal abnormalities | 10/77 (13) |
| Osteopenia | 4 |
| Missing 2 thoracic vertebrae | 1 |
| Fused C2-C3 vertebrae | 1 |
| Spina bifida occulta T8 | 1 |
| Small left cervical rib | 1 |
| Missing T12 ribs | 1 |
| Incomplete blocked vertebrae at C6-C7 | 1 |
| Brain abnormalities | 5/29 (17) |
| Single focal subcortical white matter abnormality in right frontal lobe | 1 |
| Increased T1 signal in cerebellum | 1 |
| Prominent perivascular spaces | 1 |
| Small arachnoid cyst in left middle cranial fossa | 1 |
| 6-mm descent of cerebellar tonsils to C1 arch; prominent perivascular spaces; delayed myelination; periventricular white matter lesion of L temporal lobe; 2 L subependymal cysts | 1 |
| Audiology findings | 13/75 (17) |
| Bilateral conductive hearing loss | 5 |
| Unilateral conductive hearing loss | 5 |
| Bilateral mixed hearing loss | 1 |
| Bilateral sensorineural hearing loss | 2 |
ASD = atrial septal defect; PDA = patent ductus arteriosus; PFO = patent foramen ovale; VSD = ventricular septal defect.