Autofluorescence Imaging in a Case of Benign Familial Fleck Retina

Benign Fleck Retinal Findings on Multifocal ERG, Microperimetry, and OCT

“…All of these observations would suggest local functional abnormalities of the retina near the superior arcade where fluorescein angiography and fundus autofluorescence abnormalities of the RPE are more obvious. 5 The mfERG and microperimetry tests were able to detect a functional deficit not observed on full-field ERG, pattern ERG, or automated perimetry, demonstrating for the first time that benign fleck retina can bring on a functional defect.…”

Benign Fleck Retinal Findings on Multifocal ERG, Microperimetry, and OCT

“…All of these observations would suggest local functional abnormalities of the retina near the superior arcade where fluorescein angiography and fundus autofluorescence abnormalities of the RPE are more obvious. 5 The mfERG and microperimetry tests were able to detect a functional deficit not observed on full-field ERG, pattern ERG, or automated perimetry, demonstrating for the first time that benign fleck retina can bring on a functional defect.…”

Suspected case of benign familial fleck retina with functional loss

“…This case highlights an atypical presentation of FBFR with a novel variant in PLA2G5 resulting in a loss of retinal function. FBFR is part of a group of retinal conditions that present with yellow to white flecks in the retina that spare the macula 6–14 . Given the partial recovery of rod function with extended dark adaption in this case and adult presentation of symptoms our initial suspicions were directed to fundus albipunctatus and an RDH5 mutation 17 .…”

“…FBFR is part of a group of retinal conditions that present with yellow to white flecks in the retina that spare the macula. [6][7][8][9][10][11][12][13][14] Given the partial recovery of rod function with extended dark adaption in this case and adult presentation of symptoms our initial suspicions were directed to fundus albipunctatus and an RDH5 mutation. 17 When compared to previous cases of FBFR, this case has common features such as normal color vision, visual acuity, and a familial history of consanguinity; however, the abnormal ERG findings are not typically part of the clinical picture with usually normal retinal function.…”

Fleck Retina of Kandori Associated with a De Novo Mutation of a Heterozygous Variant in the CAMK2A Gene

“…Krill and Archer (1977) have grouped four conditions as a differential diagnosis: fundus albipunctatus, fundus flavimaculatus, familial drusen, and FRK. Therefore, this group has now extended to retinitis punctata albescens, Bietti crystalline dystrophy; benign flecked retina syndromes; neuro-ophthalmic syndromes such as Kjellinʼs syndrome; secondary retinal flecks due to metabolic disorders such Alport syndrome, pseudoxanthoma elasticum, Gaucher disease, Sjogren Larsson syndrome, cystinosis, hyperoxaluria or membranoproliferative glomerulonephritis; iatrogenic retinopathy due to tamoxifen or canthaxanthin; carential disease such vitamin A deficiency; and fleck retina in the ring 17 chromosome 2 , 4 . This exhaustive differential diagnosis may have been excluded in our case.…”

Benign Fleck Retinal Findings on Multifocal ERG, Microperimetry, and OCT

“…All of these observations would suggest local functional abnormalities of the retina near the superior arcade where fluorescein angiography and fundus autofluorescence abnormalities of the RPE are more obvious. 5 The mfERG and microperimetry tests were able to detect a functional deficit not observed on full-field ERG, pattern ERG, or automated perimetry, demonstrating for the first time that benign fleck retina can bring on a functional defect.…”

Suspected case of benign familial fleck retina with functional loss

“…This case highlights an atypical presentation of FBFR with a novel variant in PLA2G5 resulting in a loss of retinal function. FBFR is part of a group of retinal conditions that present with yellow to white flecks in the retina that spare the macula 6–14 . Given the partial recovery of rod function with extended dark adaption in this case and adult presentation of symptoms our initial suspicions were directed to fundus albipunctatus and an RDH5 mutation 17 .…”

“…FBFR is part of a group of retinal conditions that present with yellow to white flecks in the retina that spare the macula. [6][7][8][9][10][11][12][13][14] Given the partial recovery of rod function with extended dark adaption in this case and adult presentation of symptoms our initial suspicions were directed to fundus albipunctatus and an RDH5 mutation. 17 When compared to previous cases of FBFR, this case has common features such as normal color vision, visual acuity, and a familial history of consanguinity; however, the abnormal ERG findings are not typically part of the clinical picture with usually normal retinal function.…”

Fleck Retina of Kandori Associated with a De Novo Mutation of a Heterozygous Variant in the CAMK2A Gene

“…Krill and Archer (1977) have grouped four conditions as a differential diagnosis: fundus albipunctatus, fundus flavimaculatus, familial drusen, and FRK. Therefore, this group has now extended to retinitis punctata albescens, Bietti crystalline dystrophy; benign flecked retina syndromes; neuro-ophthalmic syndromes such as Kjellinʼs syndrome; secondary retinal flecks due to metabolic disorders such Alport syndrome, pseudoxanthoma elasticum, Gaucher disease, Sjogren Larsson syndrome, cystinosis, hyperoxaluria or membranoproliferative glomerulonephritis; iatrogenic retinopathy due to tamoxifen or canthaxanthin; carential disease such vitamin A deficiency; and fleck retina in the ring 17 chromosome 2 , 4 . This exhaustive differential diagnosis may have been excluded in our case.…”

Benign Fleck Retinal Findings on Multifocal ERG, Microperimetry, and OCT

“…All of these observations would suggest local functional abnormalities of the retina near the superior arcade where fluorescein angiography and fundus autofluorescence abnormalities of the RPE are more obvious. 5 The mfERG and microperimetry tests were able to detect a functional deficit not observed on full-field ERG, pattern ERG, or automated perimetry, demonstrating for the first time that benign fleck retina can bring on a functional defect.…”

Suspected case of benign familial fleck retina with functional loss

“…This case highlights an atypical presentation of FBFR with a novel variant in PLA2G5 resulting in a loss of retinal function. FBFR is part of a group of retinal conditions that present with yellow to white flecks in the retina that spare the macula 6–14 . Given the partial recovery of rod function with extended dark adaption in this case and adult presentation of symptoms our initial suspicions were directed to fundus albipunctatus and an RDH5 mutation 17 .…”

“…FBFR is part of a group of retinal conditions that present with yellow to white flecks in the retina that spare the macula. [6][7][8][9][10][11][12][13][14] Given the partial recovery of rod function with extended dark adaption in this case and adult presentation of symptoms our initial suspicions were directed to fundus albipunctatus and an RDH5 mutation. 17 When compared to previous cases of FBFR, this case has common features such as normal color vision, visual acuity, and a familial history of consanguinity; however, the abnormal ERG findings are not typically part of the clinical picture with usually normal retinal function.…”

Fleck Retina of Kandori Associated with a De Novo Mutation of a Heterozygous Variant in the CAMK2A Gene

“…Krill and Archer (1977) have grouped four conditions as a differential diagnosis: fundus albipunctatus, fundus flavimaculatus, familial drusen, and FRK. Therefore, this group has now extended to retinitis punctata albescens, Bietti crystalline dystrophy; benign flecked retina syndromes; neuro-ophthalmic syndromes such as Kjellinʼs syndrome; secondary retinal flecks due to metabolic disorders such Alport syndrome, pseudoxanthoma elasticum, Gaucher disease, Sjogren Larsson syndrome, cystinosis, hyperoxaluria or membranoproliferative glomerulonephritis; iatrogenic retinopathy due to tamoxifen or canthaxanthin; carential disease such vitamin A deficiency; and fleck retina in the ring 17 chromosome 2 , 4 . This exhaustive differential diagnosis may have been excluded in our case.…”