Mutations in the peripherin/RDS gene are an important cause of multifocal pattern dystrophy simulating STGD1/fundus flavimaculatus

Boon, Camiel J F; Schooneveld, Mary J. van; Hollander, Anneke I. den; Lith-Verhoeven, Janneke J.C. van; Zonneveld-Vrieling, Marijke N.; Theelen, Thomas; Cremers, Frans P.M.; Hoyng, Carel B.; Klevering, B. Jeroen

doi:10.1136/bjo.2007.115659

Cited by 120 publications

(100 citation statements)

References 57 publications

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“…Common clinical signs include abnormal fundus phenotypes characterized by central retinal pigmentation changes, regions of hyperfluorescence and hypofluorescence, and macular defects (Michaelides et al 2005;Wickham et al 2009). In addition, patients often exhibit atrophy of the retinal pigment epithelium (RPE) and choriocapillaris, and sometimes choroidal neovascularization (Boon et al 2007b;Vaclavik et al 2012), phenotypes that are thought to contribute to the severity of the vision loss (Moshfeghi et al 2006;Vaclavik et al 2012).…”

Section: Retinal Disease Phenotypes Associated With the Prph2 Genementioning

confidence: 99%

Gene Therapy for PRPH2-Associated Ocular Disease: Challenges and Prospects

Conley

Naash

2014

Cold Spring Harbor Perspectives in Medicine

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Section: Retinal Disease Phenotypes Associated With the Prph2 Genementioning

confidence: 99%

Gene Therapy for PRPH2-Associated Ocular Disease: Challenges and Prospects

Conley

Naash

2014

Cold Spring Harbor Perspectives in Medicine

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“…Although genotypically similar to other pattern dystrophies, multifocal pattern dystrophy simulating Stargardt disease/fundus flavimaculatus is phenotypically singular. It can be distinguished from other autosomal dominant pattern dystrophies by its characteristic well demarcated, yellowish flecks with triradiate configuration [3,7].…”

Section: Discussionmentioning

confidence: 99%

Pattern dystrophy of retinal pigment epithelium

Houly¹

2017

Eye Care Vis

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“…Two patients (#1 and #3) were screened for known mutations/polymorphisms using the Asper Ophthalmics ABCR400 microarray followed by Sanger sequencing to confirm selected variants. 38 Only STGD1 patients with a minimum age of onset (first reported subjective symptoms) of 45 years were included as defined previously. 38,39 Healthy subjects without retinal pathology served as controls.…”

Section: Patient Characterizationmentioning

confidence: 99%

“…38 Only STGD1 patients with a minimum age of onset (first reported subjective symptoms) of 45 years were included as defined previously. 38,39 Healthy subjects without retinal pathology served as controls.…”

Section: Patient Characterizationmentioning

confidence: 99%

Choroidal Flow Signal in Late-Onset Stargardt Disease and Age-Related Macular Degeneration: An OCT-Angiography Study

Müller

Pfau

Möller

et al. 2018

Invest. Ophthalmol. Vis. Sci.

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PURPOSE. To investigate the choroidal blood flow in areas within and adjacent to retinal pigment epithelium (RPE) atrophy secondary to late-onset Stargardt disease (STGD1) and agerelated macular degeneration (AMD). METHODS.A total of 43 eyes (23 STGD1 and 20 AMD) of patients with RPE atrophy and 25 eyes of healthy controls without ocular pathology underwent multimodal imaging including optical coherence tomography angiography (OCT-A; PLEX Elite 9000 Swept-Source OCT). Using an exploratory approach, choriocapillaris and deeper choroid OCT-A slabs were evaluated in order to detect differences between STGD1 and AMD. The magnitude of absenceof-flow signal (AFS) was investigated in terms of area-fraction and size-frequency distribution. RESULTS.Qualitative and quantitative analysis of areas of RPE atrophy revealed more pronounced rarefaction of the choriocapillaris flow signal in STGD1 as compared to AMD (AFS area fraction: 33.15% 6 6.86% vs. 31.68% 6 8.39%; P ¼ 0.517), while outside RPE atrophy rarefaction was less pronounced in STGD1 (AFS area fraction: 17.41% 6 5.67% vs. 21.59% 6 6.90%; P < 0.001), to the level of nonsignificance compared to controls (13.27% 6 2.99%, P ¼ 0.368). Given this discrepancy, the ratio of the AFS area fraction within/outside of RPE atrophy could be used to differentiate between STGD1 and AMD with 65.0% sensitivity and 92.3% specificity. CONCLUSIONS.Using OCT-A, comparison of choroidal flow signal within and outside the area of RPE atrophy revealed distinct differences between STGD1 and AMD, potentially implicating a differential role of the choroid in the pathogenesis of RPE atrophy in these two diseases.

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Mutations in the peripherin/RDS gene are an important cause of multifocal pattern dystrophy simulating STGD1/fundus flavimaculatus

Cited by 120 publications

References 57 publications

Gene Therapy for PRPH2-Associated Ocular Disease: Challenges and Prospects

Gene Therapy for PRPH2-Associated Ocular Disease: Challenges and Prospects

Pattern dystrophy of retinal pigment epithelium

Choroidal Flow Signal in Late-Onset Stargardt Disease and Age-Related Macular Degeneration: An OCT-Angiography Study

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