Benign familial fleck retina: estudo multimodal incluindo OCT angiography

RESUMO

O objetivo do presente relato é demonstrar um estudo multimodal de um paciente com diagnóstico de Benign Familial Fleck Retina (BFFR) (OMIM 228980), uma alteração retinana muito rara. Retinografia colorida demonstrou “flecks” na retina posterior ao equador, poupando mácula. Tanto autofluorescência quando imagem “infrared,” nota-se padrão simétrico de lesões amareladas em ambos os olhos. Eletrorretinograma padrão de campo total e EOG não evidenciaram alterações. SD OCT B-scan demostrou pequenos e múltiplos descolamentos do epitélio pigmentado (EPR), com retina externa intacta em ambos os olhos. Angiografia por OCT com “split-spectrum amplitude decorrelation algorithm” e “structural” “en face” OCT 3 x 3 mm não apontaram anormalidades na mácula. BFFR pertence ao heterogêneo grupo chamado “flecked retina syndromes,” devendo ser considerada em pacientes com flecks retinianos poupando mácula.

Descritores: Oftalmopatias hereditárias/diagnóstico; Oftalmopatias hereditárias/genética; Doenças retinianas/diagnóstico; Doenças retinianas/genética; Tomografia de coerência óptica

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.

Keywords: Eye diseases, hereditary/genetics; Eye diseases, hereditary/diagnosis; Retinal diseases/diagnosis; Retinal diseases/genetics; Tomography, optical coherence

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