PMC3429291_01
Photographs of (A) thumb and (B) toe.
opth-6-1369f1.jpg
PMC3429291_01_opth-6-1369f1.jpg
f1-opth-6-1369
The patient had characteristic clinical features of Rubinstein-Taybi syndrome, including microcephaly, down-slanting palpebral fissures, broad thumbs and first toes (Figure 1), bicuspid aortic valve, and an ocular history of high myopia -6.00 diopters, exotropia, epiblepharon, and congenital glaucoma status post trabeculotomy OU and Baerveldt glaucoma implant OS.
Fundus photographs of (A) right eye and (B) left eye.
opth-6-1369f2.jpg
PMC3429291_01_opth-6-1369f2.jpg
f2-opth-6-1369
Choroidal vasculature was prominent due to diffuse retinal atrophy with scattered focal retinal pigment epithelial changes OU (Figure 2).
Arteriovenous transit phase fluorescein angiography of right eye. (A) Arterial filling at 19 seconds. (B and C) Mid-venous phase at 42 and 46 seconds (asterisks identify areas of delayed venous filling). (D) Venous filling not complete until 49 seconds.
opth-6-1369f3.jpg
PMC3429291_01_opth-6-1369f3.jpg
f3-opth-6-1369
Fluorescein angiography showed retinal vascular attenuation, prolonged arteriovenous transition time with delayed venous filling OD (Figure 3), and late small vessel leakage nasally OS (Figure 4).
Late nasal small vessel leakage OS.
opth-6-1369f4.jpg
PMC3429291_01_opth-6-1369f4.jpg
f4-opth-6-1369
Fluorescein angiography showed retinal vascular attenuation, prolonged arteriovenous transition time with delayed venous filling OD (Figure 3), and late small vessel leakage nasally OS (Figure 4).
Montage fundus photograph showing peripheral avascularity.
opth-6-1369f5.jpg
PMC3429291_01_opth-6-1369f5.jpg
f5-opth-6-1369
A total of 360 degrees of peripheral avascularity was also evident OU (Figure 5).