Retinal vascular tortuosity in DiGeorge syndrome complicated by solar retinopathy.

PURPOSE: To report a case of vascular tortuosity associated with DiGeorge syndrome that was complicated by solar retinopathy.

METHODS: Case report and literature review.

RESULTS: A 56-year-old woman with DiGeorge syndrome with secondary schizophrenia and developmental delay presented with decreased vision that was worse in her left eye. Ocular examination revealed bilateral retinal vascular tortuosity involving both the arteries and veins. Both eyes had an abnormal foveal light reflex with a central yellowish hue, which was more pronounced in the left eye. Optical coherence tomography showed disruption of the photoreceptor inner segment-outer segment junction and retinal pigment epithelium centrally, which was also more prominent in the left eye.

CONCLUSION: DiGeorge syndrome is associated with retinal vascular tortuosity in a large percentage of patients. The patient's decreased vision is likely caused by solar retinopathy (prolonged sun gazing as a result of the secondary schizophrenia and developmental delay).