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The fluorescent flecks: A case of benign familial fleck retina

Year: 2024
Type: article
Study design: Case Report
Abstract: A 9-year-old female was referred to Retina Clinic for posterior segment evaluation with a best corrected visual acuity (BCVA) of 6/6. Patient was totally asymptomatic and had come for routine eye examination to Pediatric Ophthalmology Clinic. Upon examination, she was found to have multiple yellow-white fovea-sparing fleck-like lesions spread across the retina, arranged concentrically as documented in the fundus photograph [Fig. 1a and b]. Fundus autofluorescence (FAF) showed hyperautofluorescence of these fleck-like lesions [Fig. 1c and d]. Based on these findings and the autosomal recessive pattern of inheritance, the case was diagnosed as benign familial fleck retina (BFFR). Electroretinogram (ERG) revealed normal scotopic and photopic responses.Figure 1: Fundus photos of the right eye (a) and left eye (b) showing concentrically arranged macula-sparing multiple yellow-white fleck-like lesions across the retina. Fundus autofluorescence of the right eye (c) and left eye (d) showing corresponding hyperautofluorescent macula-sparing fleck-like lesions across the retinaFirst described by Sabel Aish and Dajani in 1980, BFFR showed the presence of flecks involving the whole fundus, except the disc and macula, with no visual disturbances in seven out of 10 siblings.[1] Other flecked retinal disorders include fundus albipunctatus, fundus flavimaculatus, familial drusen, retinitis punctata albescens, and fleck retina of Kandori as the differentials.[2] These disorders can be associated with night blindness, central visual problems, abnormal ERG, and abnormal perimetry. However, ERG is normal in BFFR, and the patient is asymptomatic.[2] 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 The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.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.
Authors: Siddharth Sane, Vivek Reddy, Shruti Mohan
Language: English
Subfield: Ophthalmology
Field: Medicine
Open Access status: diamond
OpenAlex ID: W4396512490
FWCI:
Cites: 2
Cited by:
Related to: 10