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| BRIEF COMMUNICATION |
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| Year : 2022 | Volume
: 60
| Issue : 4 | Page : 335-337 |
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Case report of benign familial fleck retina
Nipun Bagrecha, M Prabhushanker, G Geetha, Nikulaa Parachuri
Department of Vitreo-Retina, Sankara Eye Hospital, Sathy Road, Sivanandapuram, Coimbatore, Tamil Nadu, India
| Date of Submission | 18-May-2022 |
| Date of Decision | 16-Aug-2022 |
| Date of Acceptance | 21-Aug-2022 |
| Date of Web Publication | 19-Dec-2022 |
Correspondence Address:
Nipun Bagrecha
Sankara Eye Hospital, Sathy Road, Sivanandapuram, Coimbatore - 641 035, Tamil Nadu
India
 Source of Support: None, Conflict of Interest: None
DOI: 10.4103/tjosr.tjosr_50_22
Benign familial fleck Retina is a rare inherited retinal disease first reported by Sabel Aish and Dajani in 1980. It is an autosomal recessive condition associated with a distinctive retinal appearance with no apparent visual or electrophysiological deficits. Fundus photography, autofluorescence and enhanced depth optical coherence tomography B-scan imaging modalities aid in the diagnosis. We present a case report of a 19-year-old female diagnosed with benign familial fleck retina which belongs to a heterogeneous group of flecked retina syndromes, and should be considered in patients with yellowish-white retinal lesions sparing the macula.
Keywords: Autofluorescence, autosomal recessive, electrophysiological, fleck retina, flecked retina syndromes, inherited, optical coherence tomography
How to cite this article:
Bagrecha N, Prabhushanker M, Geetha G, Parachuri N. Case report of benign familial fleck retina. TNOA J Ophthalmic Sci Res 2022;60:335-7 |
| Introduction | |  |
Benign familial fleck retina is a congenital abnormality rarely reported and was first described by Aish and Dajani in 1980.[1] It is characterized by multifocal yellowish retinal infiltrates involving the post-equatorial retina. Affected individuals are asymptomatic with no electrophysiological deficits.[2] These multifocal yellowish retinal infiltrates called as flecks are located at the level of the retinal pigment epithelium, extending to the far periphery but sparing the macula. Electroretinogram (ERG), fundus photography, fundus autofluorescence (FAF) and enhanced depth optical coherence tomography B-scan (EDI-OCT) can be used to confirm the diagnosis.[3],[4] They are not absolutely essential as the diagnosis is mainly clinical. Here, we present a young patient diagnosed with Benign Familial fleck retina.
| Case Presentation | | |
We report a case of a 19-year-old girl, with Type 1 Diabetes Mellitus who came with chief complaints of gradual, painless and progressive diminution of vision in both eyes for the past 2 months. On examination, her best corrected visual acuity was 6/9, N6 in both eyes with compound myopic astigmatism in both eyes. Anterior segment examination was unremarkable in both eyes and intraocular pressure was normal in both eyes. Fundus examination showed multiple, small, bilateral, symmetrical retinal flecks extending till the post equatorial region sparing the macula [Figure 1]. No family members were affected and no history of consanguinity was present between the parents. | Figure 1: Fundus photographs showing multiple, small, bilateral, symmetrical retinal flecks extending till the post-equatorial region sparing the macula in both eyes
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ERG recorded under scotopic and photopic conditions was normal with normal oscillatory potentials [Figure 2]a and [Figure 2]b. Hyperautofluorescence (FAF) corresponding to retinal flecks was observed in the blue and infrared autofluorescence images in both eyes [Figure 3]. EDI-OCT B-scan revealed multiple small localised elevations of the retinal pigment epithelium with disruption of the photoreceptor layer underneath those elevations in both the eyes [Figure 4]. | Figure 2: (a) Electroretinogram (ERG) recorded under scotopic and photopic conditions was normal in both eyes. (b) Normal oscillatory potentials in both eyes
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 | Figure 3: Hyperautofluorescence corresponding to retinal flecks in the blue autofluorescence and infrared autofluorescence images in both eyes
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 | Figure 4: Enhanced depth imaging Optical coherence tomography (EDI-OCT) Bscan revealed multiple small localised elevations of the retinal pigment epithelium with disruption of the photoreceptor layer underneath those elevations in both eyes
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| Discussion | | |
The patient's phenotype, ERG and imaging findings resembled that of Benign familial fleck retina first described by Aish and Dajani in 1980,[1] an extremely uncommon condition. It is an autosomal recessive condition that presents with diffuse yellow-white fleck lesions that extends into the far periphery, sparing the macula. There are usually no complaints of nyctalopia. Visual acuity and ERG are typically normal. FAF reveals hyperautofluorescence corresponding to the flecks due to accumulation of lipofuscin indicating retinal pigment epithelium dysfunction.[2] Flecked retina syndromes include Stargardt's macular dystrophy, fundus albipunctatus, retinitis punctata albescens, Leber congenital amaurosis, pseudoxanthoma elasticum and Alport's syndrome.[5] Some authors postulated that flecks correspond to retinal damage,[6] whereas others suggested that the flecks may be related to mutations in PLA2G5.[7],[8] ERG is helpful in distinguishing benign familial fleck retina from other flecked retina syndromes such as retinitis punctata albescens and fundus albipunctatus as scotopic ERG responses would be decreased in the later conditions, whereas it would be normal in benign familial fleck retina.[3] It is important to differentiate the type of flecked retina syndrome in order to properly educate patients regarding prognosis, genetic counselling and for therapeutic purposes as new treatments become available. The use of imaging technologies, such as fundus photography, FAF and EDI-OCT, is proving useful in making this differential.[4] This report describes a sporadic case of Benign familial fleck retina diagnosed with fundus photography, autofluorescence imaging, EDI-OCT B-scan and ERG.
Declaration of patient consent
The authors certify that they have obtained all appropriate patient consent forms. In the form, the legal guardian has given her consent for images and other clinical information to be reported in the journal. The guardian understands that her names and initials will not be published and due efforts will be made to conceal the patient's identity, but anonymity cannot be guaranteed.
Financial support and sponsorship
Nil.
Conflicts of interest
There are no conflicts of interest
| References | | |
| 1. | Aish SF, Dajani B. Benign familial fleck retina. Br J Ophthalmol 1980;64:652-59.  |
| 2. | Sangoram R, Karambelkar VH, Paranjpe G. Benign familial fleck retina. J Curr Med Res Opin 2020;3:702-6. |
| 3. | Skorczyk-Werner A, Pawłowski P, Michalczuk M, Warowicka A, Wawrocka A, Wicher K, et al. Fundus albipunctatus: Review of the literature and report of a novel RDH5 gene mutation affecting the invariant tyrosine (p.Tyr175Phe). J Appl Genet 2015;56:317-27. |
| 4. | Garcia JMBB, Isaac DLC, Sardeiro T, Aquino É, Avila M. Benign familial fleck retina: Multimodal imaging including optical coherence tomography angiography. Arq Bras Oftalmol 2017;80:321-3. |
| 5. | Gupta S, Jain S, Kumar V. Benign familial fleck retina JAMA Ophthalmol 2019;137:e185539. |
| 6. | Verdina T, Tsang SH, Greenstein VC, Zernant J, Sodi A, Lima LH, et al. Functional analysis of retinal flecks in Stargardt disease. J Clin Exp Ophthalmol 2012;3:10.4172/2155-9570.1000233. |
| 7. | Sergouniotis 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. |
| 8. | Bin 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. |
[Figure 1], [Figure 2], [Figure 3], [Figure 4]
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