Corkscrew retinal vessels and retinal arterial macroaneurysm in a patient with neurofibromatosis type 1: A case...

Neurofibromatosis type I (NF-1) is a multisystem autosomal dominant disease characterized by pigmentation and the growth of tumors along nerves in the skin, brain, and other parts of the body. It is caused by a mutation in the NF-1 tumor suppressor gene. NF-1 vascular disease is an important complication of the disease.

The study reports a unique case of a patient with NF-1 with 2 simultaneous vascular abnormalities, involving tiny spiral venous changes (corkscrew retinal vessels) and retinal arterial macroaneurysms. Our patient was diagnosed with NF-1 as she met the following National Institutes of Health consensus criteria for the diagnosis of NF-1: more than 6 cafe au lait macules, of a maximum diameter ≥15mm, 2 neurofibromas within the dermis, and Lisch nodules on the iris.

Retinal arterial macroaneurysm in the left eye, corkscrew retinal vessels related to NF-1 and Neurofibromatosis type I.

Due to the possibility of automatic involution of macroaneurysms, recovery may not affect vision (4). A cardiologist advised the patient to take nifedipine tablets (30mg/d) to treat her high blood pressure while continuing observation of the macroaneurysms.

Preretinal, intraretinal, and subretinal hemorrhage near the retinal artery aneurysm in the patient showed partial absorption at 3 months of follow-up.

Our analysis suggests that retinal macroaneurysm formed in the patient's body are due to neurofibroma type I secondary hypertension. The case study also indicated the symptoms of newly discovered neurofibroma type I which led to retinal microvascular abnormalities. We believe that such changes in eye blood vessels are rare and this case provides an insight to the field of neurology and ophthalmology.