Abstract
Purpose: Report an atypical Familial Retinal Arterial Tortuosity (FRAT) case associated with Hereditary Angiopathy with Nephropathy, Aneurysm and Cramps (HANAC). Methods: The authors report the case of a female patient with FRAT and HANAC, and an asymmetric ocular presentation which is unusual in Familial Retinal Arterial Tortuosity patients. Conclusion: These findings help in better understanding this rare disease. HANAC Syndrome is not a common issue; thus, it is essential to understand it to make the right diagnosis. Careful ophthalmological examination plays a key role in this process since, in the herein reported case, it could have helped to diagnose a disease capable of affecting a patient’s health, although it was an atypical ocular impairment.
Highlights
Familial Retinal Arterial Tortuosity (FRAT) is a rare disease featured by increased arteriole tortuosity in the macular region
It is associated with HANAC syndrome (Hereditary Angiopathy with Nephropathy, Aneurysm and Cramps), which is characterized by Familial Retinal Arterial Tortuosity (FRAT), cramps, hematuria, supraventricular extrasystoles, brain microangiopathy and aneurysms [4]
Familial Retinal Arterial Tortuosity is a rare disease that was first described by Beyer in 1958 [1]
Summary
These findings help in better understanding this rare disease. HANAC Syndrome is not a common issue; it is essential to understand it to make the right diagnosis. Careful ophthalmological examination plays a key role in this process since, in the reported case, it could have helped to diagnose a disease capable of affecting a patient’s health, it was an atypical ocular impairment
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