Progressive retinal vessel malformation in a premature infant with Sturge-Weber syndrome: a case report and a literature review of ocular manifestations in Sturge-Weber syndrome

Abstract

Background Sturge-Weber syndrome is a disorder marked by a distinctive facial capillary malformation, neurological abnormalities, and ocular abnormalities such as glaucoma and choroidal hemangioma. Case presentation We report a case of progressively formed retinal vessel malformation in a premature male infant with Sturge-Weber syndrome and retinopathy of prematurity, after treatment with intravitreal anti-vascular endothelial growth factor (VEGF). The baby was born at 30 weeks gestation with a nevus flammeus involving his left eyelids and maxillary area. On postmenstrual age week 39, he received intravitreal anti-VEGF. Diffuse choroidal hemangioma became evident at 40 weeks, with the classic “tomato catsup fundus” appearance. These clinical findings characterized Sturge-weber syndrome. He presented with posterior retinal vessel tortuosity and vein-to-vein anastomoses at 44 weeks. Conclusion This is a rare case of documented progression of retinal vessel malformations in a patient with Sturge-Weber syndrome and retinopathy of prematurity.

An Update on Multimodal Ophthalmological Imaging of Diffuse Choroidal Hemangioma in Sturge–Weber Syndrome

“…These include PWS affecting the eyelids as shown in Figure 1 a, conjunctival telangiectasia as in Figure 1 b, iris discoloration with heterochromia or vascularization, retinal arteriovenous aneurysm, and optic nerve abnormalities. Patients may also experience visual disturbances such as strabismus, nystagmus, and cortical blindness [ 13 , 14 ].…”

“…These include PWS affecting the eyelids as shown in Figure 1a, conjunctival telangiectasia as in Figure 1b, iris discoloration with heterochromia or vascularization, retinal arteriovenous aneurysm, and optic nerve abnormalities. Patients may also experience visual disturbances such as strabismus, nystagmus, and cortical blindness [13,14]. When only the upper eyelid is involved, glaucoma has a frequency of 21%, but this rises significantly to 72% when the facial PWS involves both eyelids [9,[16][17][18].…”