Choroidal Patterns in Stargardt Disease: Correlations with Visual Acuity and Disease Progression

Arrigo, Alessandro; Grazioli, Alessio; Romanò, Francesco; Aragona, Emanuela; Bordato, Alessandro; Nunzio, Carlo Di; Sperti, Andrea; Bandello, Francesco; Parodi, Maurizio Battaglia

doi:10.3390/jcm8091388

Cited by 23 publications

(32 citation statements)

References 13 publications

(16 reference statements)

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“…These patterns positively correlated with loss of retinal structural integrity on OCT. Furthermore, only advanced patterns (ie, pattern 3 and pattern 4) showed remarkable signs of progression after one-year follow-up 76…”

Section: Monitoring Progression Of Stgd1mentioning

confidence: 96%

<p>Monitoring and Management of the Patient with Stargardt Disease</p>

Cicinelli¹,

Battista²,

Starace³

et al. 2019

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Stargardt disease (STGD1) represents one of the major common causes of inherited irreversible visual loss. Due to its high phenotypic and genotypic heterogeneity, STGD1 is a complex disease to understand. Non-invasive imaging, biochemical, and genetic advances have led to substantial improvements in unveiling the disease processes and novel promising therapeutic landscapes have been proposed. This review recapitulates the modalities for monitoring patients with STGD1 and the therapeutic options currently under investigation for the different stages of the disease.

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Section: Monitoring Progression Of Stgd1mentioning

confidence: 96%

<p>Monitoring and Management of the Patient with Stargardt Disease</p>

Cicinelli¹,

Battista²,

Starace³

et al. 2019

OPTO

Self Cite

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“…Optical Coherence Tomography shows decreased thickness of the outer nuclear layer (ONL) and loss of external limiting membrane (ELM) and ellipsoid zone (EZ), all of which were shown to correlate well with VF defects (154,155). More recently, a novel imaging technique, optical coherence tomography angiography (OCTA), has been implemented to explore the existence and potential clinical relevance of different retinal and choroidal vascular patterns in RP patients (156,157).…”

Section: Gene Therapy In Retinitis Pigmentosamentioning

confidence: 99%

“…More recently, different STGD patterns have been described, characterized by progressively wider involvement of mid and extreme retinal periphery, as assessed by ultrawide field imaging (243). Furthermore, quantitative multimodal imaging and OCTA allowed to categorize STGD eyes accordingly to the amount of involvement of the retinal vascular and choroidal networks, highlighting different morpho-functional features and progression rates (156,244,245).…”

Section: Gene Therapy In Stargardt Diseasementioning

confidence: 99%

Gene Therapy in Inherited Retinal Diseases: An Update on Current State of the Art

et al. 2021

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Background: Gene therapy cannot be yet considered a far perspective, but a tangible therapeutic option in the field of retinal diseases. Although still confined in experimental settings, the preliminary results are promising and provide an overall scenario suggesting that we are not so far from the application of gene therapy in clinical settings. The main aim of this review is to provide a complete and updated overview of the current state of the art and of the future perspectives of gene therapy applied on retinal diseases.Methods: We carefully revised the entire literature to report all the relevant findings related to the experimental procedures and the future scenarios of gene therapy applied in retinal diseases. A clinical background and a detailed description of the genetic features of each retinal disease included are also reported.Results: The current literature strongly support the hope of gene therapy options developed for retinal diseases. Although being considered in advanced stages of investigation for some retinal diseases, such as choroideremia (CHM), retinitis pigmentosa (RP), and Leber's congenital amaurosis (LCA), gene therapy is still quite far from a tangible application in clinical practice for other retinal diseases.Conclusions: Gene therapy is an extremely promising therapeutic tool for retinal diseases. The experimental data reported in this review offer a strong hope that gene therapy will be effectively available in clinical practice in the next years.

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“…121 Adhi et al 217 also found that 64% of their STGD1 patients had an irregularly shaped choroidoscleral interface characterised by a concave-convex-concave appearance rather than the bowl-shaped contour in healthy controls. Arrigo et al 220 used OCTA to describe the progression of choroidal disease based on four patterns which are summarised in Table 7. Choroidal thinning has also been reported in RP 221,222 and cone dystrophy.…”

Section: Icga In Stgd1mentioning

confidence: 99%

The role of multimodal imaging and vision function testing inABCA4-related retinopathies and their relevance to future therapeutic interventions

et al. 2021

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The aim of this review article is to describe the specific features of Stargardt disease and ABCA4 retinopathies (ABCA4R) using multimodal imaging and functional testing and to highlight their relevance to potential therapeutic interventions. Standardised measures of tissue loss, tissue function and rate of change over time using formal structured deep phenotyping in Stargardt disease and ABCA4R are key in diagnosis, and prognosis as well as when selecting cohorts for therapeutic intervention. In addition, a meticulous documentation of natural history will be invaluable in the future to compare treated with untreated retinas. Despite the familiarity with the term Stargardt disease, this eponymous classification alone is unhelpful when evaluating ABCA4R, as the ABCA4 gene is associated with a number of phenotypes, and a range of severity. Multimodal imaging, psychophysical and electrophysiologic measurements are necessary in diagnosing and characterising these differing retinopathies. A wide range of retinal dystrophy phenotypes are seen in association with ABCA4 mutations. In this article, these will be referred to as ABCA4R. These different phenotypes and the existence of phenocopies present a significant challenge to the clinician. Careful phenotypic characterisation coupled with the genotype enables the clinician to provide an accurate diagnosis, associated inheritance pattern and information regarding prognosis and management. This is particularly relevant now for recruiting to therapeutic trials, and in the future when therapies become available. The importance of accurate genotype-phenotype correlation studies cannot be overemphasised. This approach together with segregation studies can be vital in the identification of causal mutations when variants in more than one gene are being considered as possible. In this article, we give an overview of the current imaging, psychophysical and electrophysiological investigations, as well as current therapeutic research trials for retinopathies associated with the ABCA4 gene.

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Choroidal Patterns in Stargardt Disease: Correlations with Visual Acuity and Disease Progression

Cited by 23 publications

References 13 publications

<p>Monitoring and Management of the Patient with Stargardt Disease</p>

<p>Monitoring and Management of the Patient with Stargardt Disease</p>

Gene Therapy in Inherited Retinal Diseases: An Update on Current State of the Art

The role of multimodal imaging and vision function testing inABCA4-related retinopathies and their relevance to future therapeutic interventions

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