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Cited by 70 publications

(43 citation statements)

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“…In cases of early or mild changes, enhanced visualization of subtle flecks with multicolor and multispectral imaging may be helpful in making an early diagnosis of Stargardt disease, which is beneficial because there are ongoing FDAapproved clinical trials investigating effective therapies.7 The perifoveal flecks appeared primarily on the infrared reflectance, suggesting they were located at or close to the RPE layer. 8 SD-OCT confirmed that these flecks were predominantly type A flecks, which involve the outer segments, interdigitation zone, and RPE layer.…”

Section: Discussionmentioning

confidence: 99%

New Insights Into Stargardt Disease With Multimodal Imaging

Pang¹,

Suqin²,

Sherman³

et al. 2015

Ophthalmic Surg Lasers Imaging Retina

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A 20-year-old woman with bilateral mild blurring of vision presented with a bull's eye maculopathy and was diagnosed with Stargardt disease, confirmed with genetic testing. The authors present several novel multimodal imaging findings including multicolor and multi-spectral imaging that enhanced visualization of perifoveal flecks, fundus autofluorescence that revealed both perifoveal and perimacular rings of hyperautofluorescence, adaptive optics imaging that revealed unprecedented visualization of cones at the fovea due to decreased cone density, and spectral-domain optical coherence tomography that identified thickening and increased hyperreflectivity of the external limiting membrane as a possible transient biomarker of early Stargardt disease.

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Section: Discussionmentioning

confidence: 99%

New Insights Into Stargardt Disease With Multimodal Imaging

Pang¹,

Suqin²,

Sherman³

et al. 2015

Ophthalmic Surg Lasers Imaging Retina

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“…74 However, a major limitation is that ABCA4 is larger than the current AAV vector capacity, a challenge that needs to be addressed for other genes that commonly cause inherited retinal disease, including USH2A.75 Subretinal injection of a lentivirus vector delivering ABCA4 has therefore been developed, given the larger cargo capacity of lentiviruses, and is currently in an ongoing Phase I/II clinical trial (ClinicalTrials.gov Identifier: NCT01367444). There have been no safety concerns in the first three cohorts of subjects with relatively advanced disease, and no definite evidence of efficacy, with the final cohort with less severe disease now being recruited, with arguably more potential to show benefit22…”

Section: Introductionmentioning

confidence: 99%

Stargardt disease: clinical features, molecular genetics, animal models and therapeutic options

et al. 2016

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Stargardt disease (STGD1; MIM 248200) is the most prevalent inherited macular dystrophy and is associated with disease-causing sequence variants in the gene ABCA4. Significant advances have been made over the last 10 years in our understanding of both the clinical and molecular features of STGD1, and also the underlying pathophysiology, which has culminated in ongoing and planned human clinical trials of novel therapies. The aims of this review are to describe the detailed phenotypic and genotypic characteristics of the disease, conventional and novel imaging findings, current knowledge of animal models and pathogenesis, and the multiple avenues of intervention being explored.

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“…Heterozygous mutations in ABDA4 may lead to the development of age-related macular degeneration[129]. At present, there is no cure for ABCA4-associated disease Gene therapy is a logical strategy for Stargardt disease, although the large size of the ABCA4 cDNA prevents its formulation as a traditional AAV (maximum capacity approximately 4,7 kb)[130]. In this sense, lentiviral vectors are an interesting alternative.…”

Section: 3stargardt Diseasementioning

confidence: 99%