Retinal vascular abnormalities in a patient with an overgrowth syndrome

Abstract

AbstractPurpose: To present a case report of unilateral vascular abnormalities on the retina of a patient with an overgrowth syndrome.Methods: A 26‐year‐old male who presents hemihypertrophy, hemimegaloencephaly, cutaneous haemangiomas and intellectual disability who underwent a complete ophthalmological examination. A detailed retinal imaging was performed as well as a fluorescein angiography (FA) and optical coherence tomography (OCT).Results: Fundus examination of the right eye revealed retinal vascular tortuosity while on the left eye there was fibrovascular proliferative tissue with new vessels from the optic nerve to retinal temporal vessel arcades and an area of chorioretinal atrophy in the superior‐temporal sector. FA illustrated diffuse retinal vascular leakage around temporal arcades which was more evident in late‐phase fluorescein angiograms, but no ischemic areas were found. An extrafoveal epiretinal membrane was seen by OCT on the left eye. As his visual acuity was adequate (20/20 vision in both eyes), initially a conservative management was considered, with visits every 6 months.Conclusions: Patients with an overgrowth syndrome can present different ocular abnormalities as optic nerve hypoplasia, strabismus, and high myopia but it is not frequent to find retinal vascular abnormalities. These patients would require a strict follow‐up by an ophthalmologist. This case also led us to think of the importance of a multidisciplinary work and how useful is to have a genetic testing and a differential diagnosis from all types of overgrowth disorders associated with ocular manifestations.