Fleck Retina, Familial Benign

Last update 01 Nov 2024

Basic Info

Synonyms

FLECK RETINA, FAMILIAL BENIGN, FRFB, Familial benign flecked retina

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Introduction

A rare retinal dystrophy with characteristics of diffuse bilateral white-yellow fleck-like lesions extending to the far periphery of the retina but sparing the foveal region, with asymptomatic clinical phenotype and absence of electrophysiologic deficits.

100 Clinical Results associated with Fleck Retina, Familial Benign

100 Translational Medicine associated with Fleck Retina, Familial Benign

0 Patents (Medical) associated with Fleck Retina, Familial Benign

Literatures (Medical) associated with Fleck Retina, Familial Benign

01 May 2024·Ophthalmic Surgery, Lasers and Imaging Retina

RWC Update: Different Surgical Techniques for Macular Hole Associated With Retinal Detachment; Diabetic Macular Edema – How Do You Treat Patients With Good Visual Acuity?; Benign Familial Fleck Retina

Article

Author: Bloom, Steven ; Lanzetta, Paolo ; Patel, Afroz Q ; Stanga, Paulo ; Veritti, Daniele ; Netralaya, Shree Ramkrishna ; Nicholson, Luke ; Boyer, David ; Gupta, Ayushi ; Cheung, Chui Ming Gemmy ; Rezaei, Kourous A ; Walinjkar, Jaydeep ; Wu, Lihteh ; Sarao, Valentina ; Agrawal, Vishal ; Sharma, Ashish ; Netralaya, Raghunath

08 Mar 2024·RETINAL Cases & Brief Reports

A novel RLBP1 gene mutation associated to a flecked retina syndrome

Article

Author: Bruneau, Sebastien ; Issa, Mohamad ; Tadayoni, Ramin ; Sukkarieh, Georges

Purpose:To present an unusual fleck retina condition associated to a novel RLBP1 gene mutation.Methods/Results: A 25-year old male presented flecks on fundoscopic examination. Clinical presentation, multimodal imaging and ERG were compatible with the diagnosis of benign familial fleck retina. Genetic analysis detected an RLBP1 gene, a gene commonly associated with more severe retinal disease.Conclusion:Flecked retina syndromes and other genetic retinal diseases have a complex genotype-phenotype relation and need further research for their pathophysiology to be fully understood.

01 Dec 2023·Clinical Case Reports

Suspected case of benign familial fleck retina with functional loss

Author: Grigg, John R. ; Constable, Paul A. ; Loh, Lynne

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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Fleck Retina, Familial Benign

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