PMC9537679_01
Slit-lamp photographs of the right and left eyes. Both eyes show anterior synechia (long arrows). The left eye shows pupil deformation and deviation (short arrow), iris atrophy causing the formation of a localized pore (arrowhead).
fcvm-09-977432-g0001.jpg
PMC9537679_01_fcvm-09-977432-g0001.jpg
F1
Ocular examination revealed visual acuity of 0.5 in the right eye, intraocular pressure of 28.2 mmHg in the right eye and 39.8 mmHg in the left eye; the left eye had 15 degrees of exotropia, a corneal diameter of 13 mm, slight edema, partial anterior adhesion of the atrial angle, iris atrophy, and localized hole formation (Figure 1).
Fundus photographs showing a normal optic disc in the right eye and a pale optic disc with a clear border in the left eye (arrow). The cup-to-disc ratio is 0.3 for the right eye and 0.9 for the left eye.
fcvm-09-977432-g0002.jpg
PMC9537679_01_fcvm-09-977432-g0002.jpg
F2
She had a distorted and deviated left pupil, clear right cornea, round right pupil, clear lens in both eyes, cup-to-disc ratio of 0.9 in the left eye and 0.3 in the right eye, pale and well-defined optic disc in the left eye, and normal retinas (Figure 2).
(A) The patient has a wide flat nasal bridge, increased distance between the medial canthi, and flat cheeks. (B) The patient has fairly normal dentition with a sharp crown and poorly developed permanent teeth.
fcvm-09-977432-g0003.jpg
PMC9537679_01_fcvm-09-977432-g0003.jpg
F3
The midface was flattened and the eyes were widely spaced (Figure 3A). The dentition was still regular, with a sharp crown and poorly developed permanent teeth, of which there were currently only four (Figure 3B).
Echocardiography shows (A) severe mitral regurgitation and (B) severe tricuspid regurgitation. (C) Intraoperative photographs show that the aorta is 1.5 cm in diameter, which is significantly smaller than normal. RA, right atrium; RV, right ventricle; LA, left atrium; LV, left ventricle; AML, anterior mitral leaflet; MR, mitral regurgitation; TR, tricuspid regurgitation; AO, aorta; PA, pulmonary artery.
fcvm-09-977432-g0004.jpg
PMC9537679_01_fcvm-09-977432-g0004.jpg
F4
Preoperative echocardiography showed a left ventricular ejection fraction of 58%, mitral valve thickening and severe mitral valve closure incompetence (Figure 4A), total heart enlargement, severe tricuspid valve closure incompetence (Figure 4B), and reduced right ventricular systolic function. Intraoperatively, the patient was also found to have a hypoplastic aorta with a significantly smaller aortic diameter than normal for her age (Figure 4C).