Morpho-functional correlation of fundus autofluorescence in Stargardt disease

Parodi, Maurizio Battaglia; Iacono, Pierluigi; Triolo, Giacinto; Spina, Carlo La; Zucchiatti, Ilaria; Cicinelli, Maria Vittoria; Borrelli, Enrico; Manitto, Maria Pia; Martina, Elisabetta; Bandello, Francesco

doi:10.1136/bjophthalmol-2014-306237

Cited by 26 publications

(22 citation statements)

References 29 publications

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“…A correlation was found between the foveal NIR-AF pattern and vision acuity in Stargardt patients. 31 Cideciyan et al suggested the importance of melanin-dependent NIR-AF to follow the progression of the early-stage of ABCA4associated retinal disease. 32 RPE melanin plays a great role in the pathology and diagnosis of Stargardt disease.…”

Section: Discussionmentioning

confidence: 99%

Fundus autofluorescence, spectral‐domain optical coherence tomography, and histology correlations in a Stargardt disease mouse model

et al. 2020

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Stargardt disease (STGD1), known as inherited retinal dystrophy, is caused by ABCA4 mutations. The pigmented Abca4−/− mouse strain only reflects the early stage of STGD1 since it is devoid of retinal degeneration. This blue light‐illuminated pigmented Abca4−/− mouse model presented retinal pigment epithelium (RPE) and photoreceptor degeneration which was similar to the advanced STGD1 phenotype. In contrast, wild‐type mice showed no RPE degeneration after blue light illumination. In Abca4−/− mice, the acute blue light diminished the mean autofluorescence (AF) intensity in both fundus short‐wavelength autofluorescence (SW‐AF) and near‐infrared autofluorescence (NIR‐AF) modalities correlating with reduced levels of bisretinoid‐fluorophores. Blue light‐induced RPE cellular damage preceded the photoreceptors loss. In late‐stage STGD1‐like patient and blue light‐illuminated Abca4−/− mice, lipofuscin and melanolipofuscin granules were found to contribute to NIR‐AF, indicated by the colocalization of lipofuscin‐AF and NIR‐AF under the fluorescence microscope. In this mouse model, the correlation between in vivo and ex vivo assessments revealed histological characteristics of fundus AF abnormalities. The flecks which are hyper AF in both SW‐AF and NIR‐AF corresponded to the subretinal macrophages fully packed with pigment granules (lipofuscin, melanin, and melanolipofuscin). This mouse model, which has the phenotype of advanced STGD1, is important to understand the histopathology of Stargardt disease.

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Section: Discussionmentioning

confidence: 99%

Fundus autofluorescence, spectral‐domain optical coherence tomography, and histology correlations in a Stargardt disease mouse model

et al. 2020

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“…Therefore, they are only estimates of the true size of these regions. The use of color fundus photographs, fundus autofluorescence, and OCT is well established in the assessment of the atrophic area; 24 – 29 however, they are unable to differentiate regions of normal and subnormal function. Similar to retinal imaging, we have demonstrated variability in the assessment of the size of the regions with DS or NS LDC.…”

Section: Discussionmentioning

confidence: 99%

Intersession test—retest variability of conventional and novel parameters using the MP-1 microperimeter

Wong

Mackey

Morgan

et al. 2015

OPTH

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PurposeTo investigate the intersession test–retest variability (TRV) of topography- and threshold-based parameters derived from the Nidek MP-1.DesignProspective observational study.MethodsSixteen participants with and without central scotoma underwent microperimetry in one eye over three sessions at 1-month intervals in a single institution. We calculated 95% coefficient of repeatability (CR) for the number of normal-suspect (NS) loci, relative scotoma (RS) and dense scotoma (DS), median macular sensitivity (MS), mean sensitivity of responding loci (RLS), perilesional loci (PLS), and extralesional loci (ELS). Topographical agreement score of mapping NS and DS loci (TASNS and TASDS) were also calculated for each patient.ResultsMean (range) age was 50 (21–86) years. The CR (95% confidence intervals) for NS, RS, and DS were 9.9 (6.5–13.3), 9.5 (6.2–12.7), and 3.0 (1.1–4.1) respectively. CR (95% CIs) for median MS, mean RLS, PLS, and ELS were 3.4 (2.3–4.5), 1.6 (1.1–2.2), 1.8 (0.9–2.6), and 2.8 (1.5–4.0) dB. We found significant change in thresholds between Test 1, and Tests 2 and 3 (both P=0.03), but not between Tests 2 and 3 (P=0.8). Medians (range) TASNS and TASDS were 74% (39%–100%) and 77% (0%–97%), respectively, between Tests 2 and 3.ConclusionWe recommend the use of four DS loci (upper limit of CR) as the limit of TRV for assessing change. There was large interindividual variability in NS or DS mapping agreement. We recommend discarding the first microperimetry test and caution the use of a change in spatial distribution to determine disease progression.

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“…This image was used to evaluate the preservation of the ellipsoid zone (EZ) through the fovea [57] and the possible foveal sparing from the disease [38]. A cube of OCT scans was then obtained in high-speed mode with the automated real-time mode activated and set to 10 (creating a mean image of ten repeated identical B-scans to improve signal-to-noise ratio).…”

Section: Methodsmentioning

confidence: 99%

Expanding the Mutation Spectrum in ABCA4: Sixty Novel Disease Causing Variants and Their Associated Phenotype in a Large French Stargardt Cohort

Nassisi

Mohand‐Saïd

Dhaenens

et al. 2018

IJMS

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Here we report novel mutations in ABCA4 with the underlying phenotype in a large French cohort with autosomal recessive Stargardt disease. The DNA samples of 397 index subjects were analyzed in exons and flanking intronic regions of ABCA4 (NM_000350.2) by microarray analysis and direct Sanger sequencing. At the end of the screening, at least two likely pathogenic mutations were found in 302 patients (76.1%) while 95 remained unsolved: 40 (10.1%) with no variants identified, 52 (13.1%) with one heterozygous mutation, and 3 (0.7%) with at least one variant of uncertain significance (VUS). Sixty-three novel variants were identified in the cohort. Three of them were variants of uncertain significance. The other 60 mutations were classified as likely pathogenic or pathogenic, and were identified in 61 patients (15.4%). The majority of those were missense (55%) followed by frameshift and nonsense (30%), intronic (11.7%) variants, and in-frame deletions (3.3%). Only patients with variants never reported in literature were further analyzed herein. Recruited subjects underwent complete ophthalmic examination including best corrected visual acuity, kinetic and static perimetry, color vision test, full-field and multifocal electroretinography, color fundus photography, short-wavelength and near-infrared fundus autofluorescence imaging, and spectral domain optical coherence tomography. Clinical evaluation of each subject confirms the tendency that truncating mutations lead to a more severe phenotype with electroretinogram (ERG) impairment (p = 0.002) and an earlier age of onset (p = 0.037). Our study further expands the mutation spectrum in the exonic and flanking regions of ABCA4 underlying Stargardt disease.

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Morpho-functional correlation of fundus autofluorescence in Stargardt disease

Abstract: Our data suggest that NIR-FAF patterns correlate with morpho-functional outcomes in eyes affected by Stargardt disease. Longitudinal investigations are warranted to assess more precisely the actual contribution of NIR-FAF in the clinical characterisation of Stargardt disease.

Cited by 26 publications

References 29 publications

Fundus autofluorescence, spectral‐domain optical coherence tomography, and histology correlations in a Stargardt disease mouse model

Fundus autofluorescence, spectral‐domain optical coherence tomography, and histology correlations in a Stargardt disease mouse model

Intersession test—retest variability of conventional and novel parameters using the MP-1 microperimeter

Expanding the Mutation Spectrum in ABCA4: Sixty Novel Disease Causing Variants and Their Associated Phenotype in a Large French Stargardt Cohort

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Morpho-functional correlation of fundus autofluorescence in Stargardt disease

Abstract: Our data suggest that NIR-FAF patterns correlate with morpho-functional outcomes in eyes affected by Stargardt disease. Longitudinal investigations are warranted to assess more precisely the actual contribution of NIR-FAF in the clinical characterisation of Stargardt disease.

Cited by 26 publications

References 29 publications

Fundus autofluorescence, spectral‐domain optical coherence tomography, and histology correlations in a Stargardt disease mouse model

Fundus autofluorescence, spectral‐domain optical coherence tomography, and histology correlations in a Stargardt disease mouse model

Intersession test&mdash;retest variability of conventional and novel parameters using the MP-1 microperimeter

Expanding the Mutation Spectrum in ABCA4: Sixty Novel Disease Causing Variants and Their Associated Phenotype in a Large French Stargardt Cohort

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Intersession test—retest variability of conventional and novel parameters using the MP-1 microperimeter