Phospholipase A2 Group v in Benign Familial Fleck Retina in a Set of Triplets

Bin, Ng Jun; Heng, Hah Moon; Poh, R.; Noor, Suzita Mohd; Subrayan, Visvaraja

doi:10.1097/iae.0000000000000446

Cited by 9 publications

(12 citation statements)

References 12 publications

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“…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.…”

Section: Discussionmentioning

confidence: 99%

“…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.…”

Section: Introductionmentioning

confidence: 99%

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

Manayath

Verghese

Gosalia

et al. 2022

Oman Journal of Ophthalmology

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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.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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

Manayath

Verghese

Gosalia

et al. 2022

Oman Journal of Ophthalmology

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“…66,67 This lipofuscin-like aggregates which is primarily composed of cross-linked lipid and protein at the retinal pigment epithelium (RPE) layer that gives rise to the focal thickening is referred to as 'fleck'. 68 Lipofuscin is a marker of membrane, mitochondria and lysosomes damage. 68,69 Usually lipofuscin is regarded as aggregates of undigested cell materials that accumulates over a lifetime, occupying major portions of the RPE cell in elderly individuals and is a hallmark of aging.…”

Section: Spla 2 Mutations and Benign Fleck Retinamentioning

confidence: 99%

“…68 Lipofuscin is a marker of membrane, mitochondria and lysosomes damage. 68,69 Usually lipofuscin is regarded as aggregates of undigested cell materials that accumulates over a lifetime, occupying major portions of the RPE cell in elderly individuals and is a hallmark of aging. [69][70][71][72] Benign familial fleck retina (BFFR) is a congenital abnormality characterized by multifocal small, round, distinctive diffuse yellow-white flecklike lesions of varying size involving the postequatorial retina without the involvement of the central macula.…”

Section: Spla 2 Mutations and Benign Fleck Retinamentioning

confidence: 99%

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<p>Human Secretary Phospholipase A2 Mutations and Their Clinical Implications</p>

Khan

Hariprasad

2020

JIR

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Phospholipases A2 (PLA 2 s) belong to a superfamily of enzymes responsible for hydrolysis of the sn-2 fatty acids of membrane phospholipids to release arachidonic acid. PLA 2 s are the rate limiting enzyme for the downstream synthesis of prostaglandins and leukotrienes that are the main mediators of inflammation. The extracellular forms of this enzyme are also called the secretary phospholipase A2 (sPLA 2) and are distributed extensively in most of the tissues in the human body. Their integral role in inflammatory pathways has been the primary reason for the extensive research on this molecule. The catalytic mechanism of sPLA 2 is initiated by a histidine/aspartic acid/calcium complex within the active site. Though they are known to have certain housekeeping functions, certain mutations of sPLA 2 are known to be implicated in causation of certain pathologies leading to diseases such as atherosclerosis, cardiovascular diseases, benign fleck retina, neurodegeneration, and asthma. We present an overview of human sPLA 2 and a comprehensive compilation of the mutations that result in various disease phenotypes. The study not only helps to have a holistic understanding of human sPLA 2 mutations and their clinical implications, but is also a useful platform to initiate research pertaining to structure-function relationship of the mutations to develop effective therapies for management of these diseases.

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Suspected case of benign familial fleck retina with functional loss

Constable,

Loh,

Grigg

2023

Clinical Case Reports

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Key Clinical MessageInherited retinal dystrophies typically affect vision in early childhood; however, this case highlights a late onset retinal dystrophy presenting in midlife and the need for extended visual electrophysiology testing to determine the etiology.AbstractA 53‐year‐old female was referred for visual electrophysiology following a routine optometric eye examination in which yellow flecks were noted in both fundi and the patient had reported a recent near accident whilst driving at night. There was no reported family history of eye disease. Retinal examination identified bilateral yellow punctate and irregularly shaped lesions throughout the posterior poles sparing the macula region. Fundus autofluorescence showed coinciding hyperfluorescence with the lesions and bilateral hypofluorescent crescents superior to the macular with corresponding retinal thinning. Visual fields and color vision were normal. ISCEV standard 20 min and extended 60‐min dark adapted electroretinograms were recorded. Recovery to normal b‐wave amplitudes was noted in the DA0.01 flash but reduced a‐wave amplitudes were noted in the DA3 and DA10 flash following both dark adapted periods. Cone function was reduced but within normal limits. Genetic screening revealed a previously unreported variant of unknown significance in the gene PLA2G5:c.40 + 5del (rs1364254561) which is a member of the phospholipase A2 family and is associated with familial benign flecked retina.

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Phospholipase A2 Group v in Benign Familial Fleck Retina in a Set of Triplets

Abstract: The clinical findings in this family suggest a diagnosis of benign familial fleck retina with excellent prognosis, in which the PLA2G5 gene may play a role.

Cited by 9 publications

References 12 publications

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

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

<p>Human Secretary Phospholipase A2 Mutations and Their Clinical Implications</p>

Suspected case of benign familial fleck retina with functional loss

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