Stargardt's Disease and the<i>ABCR</i>Gene

Westerfeld, Corey; Mukai, Sonoyo

doi:10.1080/08820530701745249

Cited by 31 publications

(21 citation statements)

References 59 publications

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“…Loss of function of the ABC transporter ABCA4 (ABCR) from mice or humans is associated with various retinal defects ( 35 ). In mice, the observed defects depend on the genetic strain of mice; Abca4 Ϫ / Ϫ mice on albino background, but not on a C57BL/6 background, show changes in organization of the rods and cones as determined by electron microscopy and changes in the response of the retinal cells to light as determined by electroretinography ( 36,37 ).…”

Section: Effect Of Loss Of Abcg1 And/or Abcg4 On the Mouse Retinamentioning

confidence: 99%

Differential expression and function of ABCG1 and ABCG4 during development and aging

Bojanic¹,

Tarr²,

Gale³

et al. 2009

The Journal of Lipid Research

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Section: Effect Of Loss Of Abcg1 And/or Abcg4 On the Mouse Retinamentioning

confidence: 99%

Differential expression and function of ABCG1 and ABCG4 during development and aging

Bojanic¹,

Tarr²,

Gale³

et al. 2009

The Journal of Lipid Research

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“…The presence of normal full-field ERG results often accompanies a clinical diagnosis of Stargardt disease. 8,14,21 However, in a limited number of patients with more advanced disease, Fishman and associates reported a higher percentage of abnormal full-field ERG values. 14 More recently, Simonelli and associates used full-field ERG values to group patients with ABCA4 -associated disease into mild and severe phenotypes.…”

mentioning

confidence: 99%

“…Other phenotypic presentations of ABCA4 mutations include progressive cone–rod degenerations with rapidly expanding central scotomata, often called inverse retinitis pigmentosa , and rarely typical retinitis pigmentosa. 1–8 The most common clinical manifestation of 2 or more ABCA4 mutations is Stargardt disease, which involves progressive loss of central vision, with near normal peripheral visual fields. Symptom onset of Stargardt disease typically occurs during the first and second decades of life, although there is a subgroup of patients who demonstrate symptoms later in life.…”

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confidence: 99%

Clinical Phenotypes and Prognostic Full-Field Electroretinographic Findings in Stargardt Disease

Zahid

Jayasundera

Rhoades

et al. 2013

American Journal of Ophthalmology

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PURPOSE To investigate the relationships between clinical and full-field electroretinographic (ERG) findings and progressive loss of visual function in Stargardt disease. DESIGN Retrospective cohort study. METHODS We performed a retrospective review of data from 198 patients with Stargardt disease. Measures of visual function over time, including visual acuity, quantified Goldmann visual fields, and full-field ERG data were recorded. Data were analyzed using SAS statistical software. Subgroup analyses were performed on 148 patients with ERG phenotypic data, 46 patients with longitudinal visual field data, and 92 patients with identified ABCA4 mutations (46 with 1 mutation, and 47 with 2 or more mutations). RESULTS Of 46 patients with longitudinal visual field data, 8 patients with faster central scotoma progression rates had significantly worse scotopic B-wave amplitudes at their initial assessment than 20 patients with stable scotomata (P = .014) and were more likely to have atrophy beyond the arcades (P = .047). Overall, 47.3% of patients exhibited abnormal ERG results, with rod–cone dysfunction in 14.2% of patients, cone–rod dysfunction in 17.6% of patients, and isolated cone dysfunction in 15.5% of patients. Abnormal values in certain ERG parameters were associated significantly with (maximum-stimulation A- and B-wave amplitudes) or tended toward (photopic and scotopic B-wave amplitudes) a higher mean rate of central scotoma progression compared with those patients with normal ERG values. Scotoma size and ERG parameters differed significantly between those with a single mutation versus those with multiple mutations. CONCLUSIONS Full-field ERG examination provides clinically relevant information regarding the severity of Stargardt disease, likelihood of central scotoma expansion, and visual acuity deterioration. Patients also may exhibit an isolated cone dystrophy on ERG examination.

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“…An ATP-binding cassette (ABC) transporter protein encoded by the ABCA4 gene is responsible for the disease in the autosomal recessive state. [2][3][4] Visual decline is gradual and progressive and visual acuity ranges from 20/50 to 20/200.…”

Section: Stargardt's Disease/fundus Flavimaculatus (Juvenile Macular mentioning

confidence: 99%

Mimickers of Age-Related Macular Degeneration

Dosunmu

Bakri

2011

Seminars in Ophthalmology

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In the Western World, the leading cause of irreversible blindness is Age- Related Macular Degeneration (ARMD). It can have significant visual impairment, and it is important that the practicing ophthalmologist is knowledgeable in the diagnosis and treatment of ARMD. Equally important is knowledge in the diagnosis of other disease entities that may mimic ARMD, as this may change the prognosis, treatment and visual outcome of patients. This article discusses those diseases that mimic ARMD and their distinguishing features.

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Stargardt's Disease and theABCRGene

Cited by 31 publications

References 59 publications

Differential expression and function of ABCG1 and ABCG4 during development and aging

Differential expression and function of ABCG1 and ABCG4 during development and aging

Clinical Phenotypes and Prognostic Full-Field Electroretinographic Findings in Stargardt Disease

Mimickers of Age-Related Macular Degeneration

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