Benign familial fleck retina: multimodal imaging including optical coherence tomography angiography

• Autor(a) principal: Garcia,Jose Mauricio Botto de Barros
• Data de Publicação: 2017
• Outros Autores: Isaac,David Leonardo Cruvinel, Sardeiro,Tainara, Aquino,Érika, Avila,Marcos
• Tipo de documento: Relatório
• Idioma: eng
• Título da fonte: Arquivos brasileiros de oftalmologia (Online)
• Texto Completo: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-27492017000500012
• topic: Eye diseases, hereditary/genetics; Eye diseases, hereditary/diagnosis; Retinal diseases/diagnosis; Retinal diseases/genetics; Tomography, optical coherence

ABSTRACT This report presents multimodal imaging of a 27-year-old woman diagnosed with benign familial fleck retina (OMIM 228980), an uncommon disorder. Fundus photographs revealed retinal flecks that affected her post-equatorial retina but spared the macular area. Fundus autofluorescence and infrared imaging demonstrated a symmetrical pattern of yellow-white fleck lesions that affected both eyes. Her full-field electroretinogram and electrooculogram were normal. An optical coherence tomography B-scan was performed for both eyes, revealing increased thickness of the retinal pigmented epithelium leading to multiple small pigmented epithelium detachments. The outer retina remained intact in both eyes. Spectral-domain optical coherence tomography angiography with split-spectrum amplitude decorrelation algorithm and 3 × 3 mm structural en face optical coherence tomography did not show macular lesions. Benign familial fleck retina belongs to a heterogenous group of so-called flecked retina syndromes, and should be considered in patients with yellowish-white retinal lesions without involvement of the macula.