Clinical and Molecular Analysis of Stargardt Disease With Preserved Foveal Structure and Function

Fujinami, Kaoru; Sergouniotis, Panagiotis I.; Davidson, Alice E.; Wright, Genevieve; Chana, Ravinder K.; Tsunoda, Kazushige; Tsubota, Kazuo; Egan, Catherine; Robson, Anthony G.; Moore, Anthony T.; Holder, Graham E.; Michaelides, Michel; Webster, Andrew R.

doi:10.1016/j.ajo.2013.05.003

Cited by 103 publications

(106 citation statements)

References 49 publications

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“…Recently, it was found that foveal sparing observed by ophthalmoscopy and/or fundus autofluorescence imaging resulted in relatively well-preserved visual acuity in patients with SFF [11,13,14]. Westeneng-van Haaften et al [11] reported that all their SFF patients with foveal sparing had normal mfERG response densities in the foveal area.…”

Section: Discussionmentioning

confidence: 99%

“…He reported that some cases also had macular degeneration [2,3]. Stargardt's disease and fundus flavimaculatus usually have an autosomal recessive inheritance pattern [1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16] and rarely an autosomal dominant pattern [17]. …”

Section: Introductionmentioning

confidence: 99%

“…Because SFF is a complex retinal dystrophy with wide variations in phenotype, it is generally diagnosed by fundus findings and fluorescein angiograms [5]. Recently, fundus autofluorescence imaging has been reported to be helpful in evaluating the status of the photoreceptors/retinal pigment epithelium in eyes with SFF [10,11,12,13,14,15,16]. Foveal sparing, which was observed by ophthalmoscopy and/or fundus autofluorescence imaging, was reported to be present in patients with slowly progressing SFF and relatively good visual acuity [11,13,14].…”

Section: Introductionmentioning

confidence: 99%

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Multifocal Electroretinograms in Stargardt's Disease/Fundus Flavimaculatus

et al. 2014

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Purpose: To determine whether the characteristics of multifocal electroretinograms (mfERGs) were correlated with the ophthalmic appearance of the fundus in patients with Stargardt's disease/fundus flavimaculatus (SFF). Methods: Full-field ERGs, mfERGs, and general ophthalmic examinations were performed on 49 eyes with SFF. Results: The SFF patients were divided into four subtypes according to the classification of Noble and Carr [Arch Ophthalmol 1979;97:1281-1285]. The patients with type 1 SFF had severely reduced mfERGs in the macular area and reduced and delayed responses in the mid-periphery. The type 2 SFF patients had reduced but recordable mfERGs from the center of the macula with more depressed responses in the paramacular area, and the type 3 SFF patients had reduced and delayed mfERGs both in the macula and periphery. The patients with type 4 SFF had normal mfERGs in the macular area and delayed responses in all outer zones. Conclusions: These mfERG findings indicate that each subtype of SFF has unique characteristics corresponding to the abnormal retinal functions.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Multifocal Electroretinograms in Stargardt's Disease/Fundus Flavimaculatus

et al. 2014

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“…The Arg653Cys (rs61749420) is associated with a foveal-sparing phenotype of STGD1 in the British population (Fujinami, Sergouniotis, et al 2013) and is a known mutation in Russian STGD1 patients (Rivera et al 2000;Demenkova et al2014). This patient also carries another likely pathogenic variation Pro68Leu which is reported in AMD and in Russian STGD1 patients (Rivera et al 2000;Demenkova et al2014).…”

Section: Abca4 Genesmentioning

confidence: 98%

Stargardt disease-associated mutation spectrum of a Russian Federation cohort

Зольникова

Стрельников

Skvortsova³

et al. 2017

European Journal of Medical Genetics

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“…[5][6][7][8][9][10] A combination of disease-causing ABCA4 alleles may, therefore, result in a severe, early-onset STGD1 phenotype (i.e., onset 10 years of age), 11,12 which is often observed as rapidly progressive cone-rod dystrophy, 5,13 in classical STGD1, 10 or in late-onset STGD1. [14][15][16] In about half of the patients with late-onset STGD1 (onset >44 years of age), only one disease-causing allele was identified, despite the sequence analysis of all coding variants. 16 In carriers of monoallelic ABCA4 variants, the second variant can reside in introns, outside of splice sites, not detected by standard sequencing methods.…”

mentioning

confidence: 99%