Novel retinal observations in a child with DiGeorge (22q11.2 deletion) syndrome

American Journal of Ophthalmology Case Reports

Syed A. Ali¹  Igor Kozak²  Wei-Chi Wu² 

[1]Corresponding author.

[2]Moorfields Eye Hospitals UAE, Abu Dhabi, United Arab Emirates

关键词: DiGeorge syndrome;    22q11.2 deletion;    Retina;    Pars plana vitrectomy;   

DOI  :  

来源: DOAJ

【 摘 要 】

Purpose: DiGeorge (22q11.2 deletion) syndrome is the most common human deletion syndrome with wide range of ocular manifestations. Herein we describe a case with novel retinal observations in this conditions. Observations: Retinal vascular dysplasia, peripapillary, intraretinal and vitreous hemorrhage were observed in a premature child with DiGeorge syndrome. Vitreous hemorrhage was treated with intravitreal injection of anti-angiogenicagents and pars plana vitrectomy surgery. Fundus fluorescein angiography did not confirm leakage of dye from dysplastic retinal vessels. Conclusions and Importance: Patients with DiGeorge syndrome may develop retinal vascular dysplasia, peripapillary, intraretinal and vitreous hemorrhage.

【 授权许可】

Unknown