Oman Journal of Ophthalmology

CASE REPORT
Year
: 2022  |  Volume : 15  |  Issue : 1  |  Page : 95--98

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


George J Manayath1, Shishir Verghese1, Hirika Vipul Gosalia1, Anuradha Kanakath2, Venkatapathy Narendran1,  
1 Department of Retina and Vitreous Services, Aravind Eye Hospital and Postgraduate Institute of Ophthalmology, Coimbatore, Tamil Nadu, India
2 Department of Uvea, Aravind Eye Hospital and Postgraduate Institute of Ophthalmology, Coimbatore, Tamil Nadu, India

Correspondence Address:
Dr. Shishir Verghese
Aravind Eye Hospital and Postgraduate Institute of Ophthalmology, Civil Aerodrome Post, Peelamedu, Coimbatore - 641 014, Tamil Nadu
India

Abstract

A 44-year-old woman presented with complaints of pain in the right eye (RE). Fundus examination revealed disc edema in the RE along with retinal flecks sparing the macula in both eyes (BE). Fundus autofluorescence demonstrated a symmetrical pattern of white flecks in BE. Spectral-domain optical coherence tomography (SD-OCT) revealed the lesions at the level of retinal pigment epithelium with impingement onto the outer retina. SD-OCT angiography through the flecks revealed hyperreflective lesions at the level of avascular retina. RE B-scan revealed a T-sign. Based on these findings, she was diagnosed with BE benign familial fleck retina (BFFR) with RE posterior scleritis. We describe the multimodal imaging features in a middle-aged patient with BFFR and provide an insight into the probable pathogenesis.



How to cite this article:
Manayath GJ, Verghese S, Gosalia HV, Kanakath A, Narendran V. Multimodal imaging including optical coherence tomography angiography of benign familial fleck retina.Oman J Ophthalmol 2022;15:95-98


How to cite this URL:
Manayath GJ, Verghese S, Gosalia HV, Kanakath A, Narendran V. Multimodal imaging including optical coherence tomography angiography of benign familial fleck retina. Oman J Ophthalmol [serial online] 2022 [cited 2022 Jun 29 ];15:95-98
Available from: https://www.ojoonline.org/text.asp?2022/15/1/95/338881


Full Text



 Introduction



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. Affected individuals are asymptomatic and hence the disease often goes unreported.[5] We report a case of a middle-aged patient who presented with posterior scleritis, and BFFR was diagnosed as an incidental finding.

 Case Report



A 44-year-old woman presented with complaints of dull aching pain in the right eye (RE) for 5 days. Her best-corrected visual acuity was 20/20 in both eyes (BE). There was no history of night blindness. She had no known systemic illnesses. Anterior segment examination in BE was unremarkable. Fundus examination of BE revealed multiple yellow-white fleck-like lesions arranged in a concentric pattern sparing only the macular region. The centrally appearing flecks were small and dot like, especially near the optic disc and papillomacular region, and were appearing linear, temporal to the macula. The peripheral flecks were shaped either pisiform or oblongated. In addition, there was disc edema in the RE [Figure 1]a and [Figure 1]b. Fundus autofluorescence (FAF) revealed hyperautofluorescence of the fleck lesions [Figure 1]c and [Figure 1]d. Spectral-domain optical coherence tomography (SD-OCT) of BE revealed a normal foveal contour. In addition, there was presence of intraretinal cystoid spaces nasal to the fovea at the papillomacular region along with disc edema in the RE. SD-OCT line scan through the affected outer retina revealed multiple small-rounded as well as conical hyperreflective lesions seen at the level of the retinal pigment epithelium (RPE) and impinging on the photoreceptor layer in BE corresponding to the flecks. The enhanced depth imaging OCT in BE revealed normal subfoveal choroidal thickness [Figure 2]a, [Figure 2]b, [Figure 2]c, [Figure 2]d, [Figure 2]e, [Figure 2]f.{Figure 1}{Figure 2}

SD-OCT angiography (SD-OCTA) imaging of BE revealed hyperreflective interspersed linear pisiform lesions at the outer retina just above the RPE in BE, with a normal underlying choriocapillaris [Figure 3]a, [Figure 3]b, [Figure 3]c, [Figure 3]d, [Figure 3]f. RE B-scan was done which showed disc elevation and the presence of T-sign, thereby confirming the diagnosis of posterior scleritis [Figure 4]a. Following a systemic workup, she was initiated on oral steroid medications.{Figure 3}

An electroretinogram (ERG) was obtained which showed normal rod and cone responses in BE [Figure 4]b.{Figure 4}

 Discussion



The term fleck retina was introduced by Krill and Klien to describe fundus conditions characterized by multiple yellow-white lesions of various sizes and configurations without vascular or optic nerve abnormalities.[5] BFFR was initially described by Aish and Dajani as a separate entity.[6] The diagnosis of BFFR is usually based on the characteristic fundus findings along with the patient being asymptomatic and having good vision. Multimodal imaging (MMI) helps to confirm the diagnosis. Benign fleck is a disease which is localized to the RPE layer and characterized by multiple hyaline excrescences that give it a characteristic yellowish-white fleck-like appearance.[6],[7] These flecks are known to appear in various sizes and shapes as well as sparing the macula. Younger patients have been shown to have immature flecks when judged by the size, density, concentration, and shape of the flecks.[6] Our patient, however, had a more posterior distribution of the flecks with the ones nasal to the macula being dot like and temporal ones being more linear. Hyperautofluorescent nature of these flecks due to deposition of lipofuscin on FAF has been well documented in the literature with our findings similar to the ones reported.[7] Fluorescein angiography is shown to reveal irregular hyperfluorescence not corresponding to the distribution of the flecks suggestive of a diffuse RPE abnormality.[8]

OCT studies of the flecks have shown it to be irregularities as well as thickening of the RPE.[5] Neriyanuri et al., in their series of four patients with BFFR, described two patients who had undergone swept-source OCT to have the lesions not only limited to the RPE but also extending to the photoreceptor layer and external limiting membrane (ELM).[7] Our patient also had similar linear and conical appearing hyperreflective lesions seen at the level of RPE with extension beyond the ELM into the outer retina in BE on SD-OCT, similar to subretinal drusenoid deposits seen in age-related macular degeneration. In addition, in the RE, there was also presence of intraretinal cystoid spaces adjacent to the edematous optic disc. EDI on SD-OCT showed the choroidal thickness and vasculature to be within normal limits without attenuation of the choriocapillaris. An SD-OCTA 3 mm × 3 mm slab through the region of the flecks revealed the lesions to have a high flow signal in an otherwise hyporeflective avascular retina. There was no obvious reduction in the choriocapillaris perfusion in our case which designates this entity to be primarily a disorder of the RPE. Garcia et al. 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. This finding is different from the previous OCTA description.[3]

ERG in patients with BFFR is usually normal as seen in our case. However, other reports have shown reduced dark-adapted ERG as well as light-adapted multifocal ERG defects.[2],[7],[9] Neriyaneuri et al. postulated that extension of the flecks from the RPE to the photoreceptor layer can result in some functional loss like delayed dark adaptation.[7]

BFFR is usually underreported as the patient remains asymptomatic with good vision. However, our case presented with complaints of ocular pain and had associated posterior scleritis.

In summary, we describe the MMI features of BFFR. Although benign, flecks are primarily abnormality of the RPE as SD-OCT and SD-OCTA reveal outer retinal involvement, which may denote the natural evolution of flecks over time in this middle-aged woman.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.

References

1Sergouniotis PI, Davidson AE, Mackay DS, Lenassi E, Li Z, Robson AG, et al. Biallelic mutations in PLA2G5, encoding group V phospholipase A2, cause benign fleck retina. Am J Hum Genet 2011;89:782-91.
2Bin NJ, Heng HM, Poh R, Noor SM, Subrayan V. Phospholipase A2 group v in benign familial fleck retina in a set of triplets. Retina 2015;35:1266-72.
3Garcia JM, Isaac DL, Sardeiro T, Aquino É, Avila M. Benign familial fleck retina: Multimodal imaging including optical coherence tomography angiography. Arq Bras Oftalmol 2017;80:321-3.
4Ernest JT, Krill AE. Fluorescein studies in fundus flavimaculatus and drusen. Am J Ophthalmol 1966;62:1-6.
5Krill AE, Klien BA. Flecked retina syndrome. Arch Ophthalmol 1965;74:496-508.
6Sabel Aish SF, Dajani B. Benign familial fleck retina. Br J Ophthalmol 1980;64:652-9.
7Neriyanuri S, Rao C, Raman R. Structural and functional characterization of benign fleck retina using multimodal imaging. Retin Cases Brief Rep 2017;11:186-90.
8Audo I, Tsang SH, Fu AD, Barnes JA, Holder GE, Moore AT. Autofluorescence imaging in a case of benign familial fleck retina. Arch Ophthalmol 2007;125:714-5.
9Galindo-Ferreiro A, Sanabria MR, Garcia EP, Coco-Martin RM, Galindo-Alonso J, Palencia-Ercilla J. Benign fleck retinal findings on multifocal ERG, microperimetry, and OCT. Ophthalmic Surg Lasers Imaging 2010;41:e1-5.