Atypical Macular Presentation in a FRAT Case and HANAC Syndrome, A Case Report
2021; Bentham Science Publishers; Volume: 15; Issue: 1 Linguagem: Inglês
10.2174/1874364102115010246
ISSN1874-3641
AutoresFelipe de Queiroz Tavares Ferreira, Marjorie Fornazier do Nascimento de Queiroz, André Luís Ayres da Fonsêca, Ana Cristina Lavor Holanda de Freitas, Maurício Abujamra Nascimento,
Tópico(s)Lysosomal Storage Disorders Research
ResumoPurpose: 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.
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