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

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.

Multimodal imaging including optical coherence tomography angiography of benign familial fleck retina

“…in their report of a 27-year-old woman with BFFR described the SD-OCTA findings of a normal choroidal microvasculature. [ 3 ] However, the flecks were limited to the RPE with no outer retinal involvement on OCT. Hence, the hyperreflective lesions seen in the avascular retina of our middle-aged patient may be attributed to the outer retinal projections of the flecks.…”

“…Flecked retina syndromes incorporate a cluster of diseases that include Stargardt's macular dystrophy, fundus albipunctatus, retinitis punctata albescens, Leber congenital amaurosis, pseudoxanthoma elasticum, Kjellin's syndrome, Alport's syndrome, Sjögren–Larsson syndrome, Bietti's crystalline dystrophy, oxalosis, and cystinosis. [ 1 2 3 ] Benign familial fleck retina (BFFR) is an autosomal recessive inherited disorder associated with a distinctive retinal appearance and no apparent visual or electrophysiological deficits. [ 4 ] Ocular fundus is characterized by the presence of retinal flecks, extending till far periphery and sparing the macula.…”

Multimodal Imaging of Fleck Retina of Kandori

“…The enhanced signal of ellipsoid zone of the optical coherence tomography in the present case was also unique comparing with the other fleck disorders where optical coherence tomography mostly showed the retinal pigment epithelial layer change. [3][4][5] Key words: fleck retina, fleck retinal disorders, ultra wide-field fundus photography, optical coherence tomography, autofluorescence.…”

“…The enhanced signal of ellipsoid zone of the optical coherence tomography in the present case was also unique comparing with the other fleck disorders where optical coherence tomography mostly showed the retinal pigment epithelial layer change. 3–5…”

Multi-modal imaging in benign familial fleck retina

“…This phenotype has a classical macular sparing, with no area spared in periphery, has an autosomal recessive inheritance and is considered in the differential of flecked retina diseases: Fundus albipunctatus, fundus flavimaculatus, fleck retina of Kandori, and familial drusens. [ 2 3 4 5 ]…”