Juvenile-Onset Macular Degeneration and Allied Disorders

North, Victoria S.; Gelman, Rony; Tsang, Stephen H.

doi:10.1159/000357293

Cited by 24 publications

(18 citation statements)

References 40 publications

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“…18, 19 In patients diagnosed with an IRD, acute changes in central vision are atypical, so any sudden loss of vision or unexplained subretinal fluid accumulation should prompt evaluation for potential CNV. We present four cases of CNV secondary to distinct retinal dystrophies.…”

Section: Discussionmentioning

confidence: 99%

Optical Coherence Tomography Angiography of Choroidal Neovascularization in Four Inherited Retinal Dystrophies

Patel

Gao

Zhang

et al. 2016

Retina

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Purpose To demonstrate the clinical utility of optical coherence tomography (OCT) angiography (OCT-A) in inherited retinal dystrophies (IRDs) complicated by choroidal neovascularization (CNV). Methods OCT-A and structural OCT were performed using a 70 kHz spectral-domain OCT system employing the split-spectrum amplitude-decorrelation angiography algorithm. Semiautomated image processing software was used to segment and measure the CNV. Results Four participants were enrolled to study the following IRDs complicated by CNV: choroideremia, EFEMP1-related retinopathy, Best vitelliform dystrophy, and adult-onset vitelliform dystrophy. Interpretation of fluorescein angiography was difficult due to abnormal retinal architecture but suggested the presence of CNV. Structural OCT revealed subretinal or sub-RPE fibrovascular tissue, within which flow signal was observed on OCT-A. CNV morphology varied from dense capillary networks in active lesions to asymptomatic large caliber loops. Baseline CNV vessel areas ranged from 0.07 to 0.98 mm2. Following treatment with intravitreal bevacizumab, the CNV in choroideremia decreased in vessel area then rebounded, while the one in EFEMP1-related retinopathy remained largely unchanged. Conclusions OCT-A enables the morphologic characterization and quantification of CNV in patients with retinal dystrophies despite distorted retinal architecture, can assess response to treatment, and may facilitate the differentiation between active and regressed lesions.

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Section: Discussionmentioning

confidence: 99%

Optical Coherence Tomography Angiography of Choroidal Neovascularization in Four Inherited Retinal Dystrophies

Patel

Gao

Zhang

et al. 2016

Retina

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“…10,11 Diagnosis is typically made based on fundus appearance, EOG measurements, and family history. 12,13 A decreased EOG Arden ratio (light peak divided by dark trough) is a hallmark of all bestrophinopathies and is caused by malfunctions in the protein bestrophin-1, believed to be a Ca 2+ -regulated chloride channel (CaCC) in the basolateral membrane of the RPE. 14 Figures 1-4 provide fundus and/or OCT examples ranging from healthy individuals (Figure 1) to those with severe bestrophinopathy (Figure 4).…”

Section: Quantifiable Therapeutic Endpoints and The Long Therapeutic mentioning

confidence: 99%

BEST1: the Best Target for Gene and Cell Therapies

Yang

Justus²,

et al. 2015

Molecular Therapy

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A retinal pigmented epithelial (RPE) disorder, bestrophinopathy has recently been proven to be amenable to gene and cell-based therapies in preclinical models. RPE disorders and allied retinal degenerations exhibit significant genetic heterogeneity, and diverse mutations can result in similar disease phenotypes. Several RPE disorders have recently become targets for gene therapies in humans. The year 2011 brought a new advance in cell-based therapies, with the Food and Drug Administration approving clinical trials using embryonic stem cells for an RPE disorder known as age-related macular degeneration. Recent studies on induced pluripotent stem (iPS)-RPE generation indicate strong potential for developing patient-specific disease models in vitro, which could eventually enable personalized treatment. This mini-review will briefly highlight the suitability of the retina for gene and cell therapies, the pathophysiology of bestrophinopathy, and the research and treatment opportunities afforded by stem cell and genetic therapies.

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“…The inherited macular dystrophies are a clinically and genetically heterogeneous group of disorders in which there are structural and functional abnormalities of the central retina [1], [2]. These disorders usually occur in isolation, but they may be associated with a variety of systemic abnormalities.…”

Section: Introductionmentioning

confidence: 99%

Benign Yellow Dot Maculopathy

et al. 2017

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Objective To describe a novel macular phenotype that is associated with normal visual function. Design Retrospective observational case series. Participants 36 affected individuals from 23 unrelated families. Methods This was a retrospective study of patients who had a characteristic macular phenotype. Subjects underwent a full ocular examination, electrophysiological studies, spectral domain optical coherence tomography (OCT) and fundus autofluorescence imaging. Genomic analyses were performed using haplotype sharing analysis and whole-exome sequencing. Main Outcome Measures Visual acuity; Retinal features; Electroretinography; Whole-exome sequencing; Haplotype sharing analysis. Results Twenty-six of 36 subjects were female. The median age at presentation was 15 years, range 5-59 years. The majority of subjects were asymptomatic and either presented following a routine eye examination (22/36 subjects), following screening due to a positive family history (13/36 subjects) or from another ophthalmologist (1/36 subjects). Of the three symptomatic subjects, 2 had reduced visual acuity. Reduced vision was attributed to diagnoses of non-organic visual loss and bilateral ametropic amblyopia with strabismus. Visual acuity was 0.18 LogMAR or better in 30/33 subjects. Color vision was normal in all subjects tested, except for the subject with non-organic visual loss. All subjects had bilateral symmetric multiple yellow dots at the macula. In the majority these were evenly distributed throughout the fovea, but in nine subjects they were concentrated in the nasal parafoveal area. The dots were hyperautofluorescent on fundus autofluorescence imaging. OCT imaging was generally normal, but in 6 subjects subtle irregularities at the inner segment ellipsoid band were seen. Electrophysiological studies identified normal macular function in 17/19 subjects and normal full-field retinal function in all subjects. Whole-exome analysis across 3 unrelated families found no pathogenic variants in known macular dystrophy genes. Haplotype sharing analysis in one family excluded linkage with the North Carolina macular dystrophy (MCDR1) locus. Conclusions A new retinal phenotype is described, which is characterised by bilateral multiple early onset yellow dots at the macula. Visual function is normal and the condition is non-progressive. In familial cases, the phenotype appears to be inherited in an autosomal dominant manner, but a causative gene is yet to be ascertained.

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Juvenile-Onset Macular Degeneration and Allied Disorders

Cited by 24 publications

References 40 publications

Optical Coherence Tomography Angiography of Choroidal Neovascularization in Four Inherited Retinal Dystrophies

Optical Coherence Tomography Angiography of Choroidal Neovascularization in Four Inherited Retinal Dystrophies

BEST1: the Best Target for Gene and Cell Therapies

Benign Yellow Dot Maculopathy

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