ABSTRACT
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.
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.
Subject(s)
Humans , Female , Adult , Retina/pathology , Retina/diagnostic imaging , Retinal Diseases/diagnostic imaging , Fluorescein Angiography/methods , Eye Diseases, Hereditary/pathology , Eye Diseases, Hereditary/diagnostic imaging , Retinal Diseases/pathology , Tomography, Optical Coherence/methods , Electroretinography/methodsABSTRACT
The purpose of the authors is to show clinical findings of a patient with benign concentric annular macular dystrophy, which is an unusual condition, and part of the bulls eye maculopathy differential diagnosis. An ophthalmologic examination with color perception, fluorescein angiography, and ocular electrophysiology was performed.
O objetivo dos autores é detalhar o quadro clínico de um paciente com distrofia macular anular concêntrica benigna, quadro raro, que compõe o diagnóstico diferencial das maculopatias em alvo. Realizou-se avaliação oftalmológica com auxílio de testes de percepção de cores, angiofluoresceinografia e eletrofisiologia ocular.
Subject(s)
Humans , Male , Adult , Color Perception , Retinal Diseases/diagnosis , Electrophysiology , Fluorescein Angiography , Macula Lutea/pathology , Diagnosis, DifferentialABSTRACT
The purpose of this study was to describe a patient with multiple evanescent white dot syndrome (MEWDS) who presented with classic retinal findings and transient changes in outer retinal anatomy. A 20-year-old man presented with mild blurred vision in the left eye, reporting flu-like symptoms 1 week before the visual symptoms started. Fundus examination of the left eye revealed foveal granularity and multiple scattered spots deep to the retina in the posterior pole. Fluorescein angiography and indocyanine green angiography showed typical MEWDS findings. Spectral Domain Optical Coherence Tomography has shown transient changes in outer retinal anatomy with disappearance of inner segment-outer segment junction and mild attenuation of external limiting membrane. Six months later, Spectral Domain Optical Coherence Tomography has shown complete resolution with recovery of normal outer retinal aspect.
O propósito deste estudo é descrever o caso de um paciente com síndrome dos múltiplos pontos brancos evanescentes (MEWDS), apresentando achados retinianos clássicos e alterações transitórias na anatomia retiniana externa. Paciente do sexo masculino, 20 anos de idade, apresentando embaçamento visual no olho esquerdo, relatando sintomas gripais uma semana antes do início dos sintomas visuais. Fundoscopia do olho esquerdo revelou granularidade foveal, múltiplos pontos brancos retinianos no polo posterior. A angiografia fluoresceínica e a indocianinografia verde evidenciaram achados típicos de MEWDS. A tomografia de coerência óptica de domínio espectral evidenciou alterações transitórias na anatomia retiniana externa como desaparecimento da junção dos segmentos interno-externo dos fotorreceptores e leve atenuação da membrana limitante externa. Após 6 meses, a tomografia de coerência óptica mostrou completa resolução com recuperação total da anatomia retiniana externa.