Unilateral vitreoretinal proliferation and retinal vessel tortuosity in Proteus syndrome

Abstract

Fig. 1 Full size image Multimodal retinal imaging of a 29-year-old woman of African descent with Proteus syndrome [ 1 , 2 ], showing tortuous retinal vessels with vitreoretinal proliferation along the superior vascular arcade in the left eye ( A , B ). The left half of the head was affected by hemihypertrophy, with ipsilateral exophthalmos and exotropia. Further clinical features included left-sided macrocephaly, epidermal naevi, macrodactyly, lipoma, ovarian cysts, exostoses and developmental delay. Best-corrected visual acuity was 20/20 in the unaffected right and 20/32 in the left eye, respectively. The anterior segment showed bilateral focal nuclear lens opacities. Proteus syndrome is a rare mosaic overgrowth disorder caused by an activating AKT1 mutation, leading to progressive, asymmetric overgrowth of bone, soft tissue, and vasculature. Ophthalmic manifestations include strabismus and epibulbar lesions [ 3 , 4 ]; proliferative vitreoretinopathy has been reported in one previous case without retinal imaging [ 5 ]. Our findings underscore the importance of a comprehensive retinal examination in this condition.