Fluorescein Angiography and Vitamin a and Oxalate Levels in Fundus Albipunctatus

Carr, Ronald E.; Margolis, Sheila; Siegel, Irwin M.

doi:10.1016/0002-9394(76)90541-9

Cited by 21 publications

(2 citation statements)

References 5 publications

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“…RDH5 mutations lead to decreased protein stability, mislocalization in the cytosol, and decreased enzyme activity (343). The patients suffer from fundus albipunctatus, a congenital night blindness caused by a delayed rod-cone pigment regeneration after strong bleaches and white dots in the fundus picture (109,367,368). In contrast, mutations in the RGR gene cause the much more severe retinitis pigmentosa (410,622).…”

Section: B Inherited Retinal Degenerations Are Caused By Mutations Imentioning

confidence: 95%

The Retinal Pigment Epithelium in Visual Function

Strauß

2005

Physiological Reviews

2,334

2,018

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Located between vessels of the choriocapillaris and light-sensitive outer segments of the photoreceptors, the retinal pigment epithelium (RPE) closely interacts with photoreceptors in the maintenance of visual function. Increasing knowledge of the multiple functions performed by the RPE improved the understanding of many diseases leading to blindness. This review summarizes the current knowledge of RPE functions and describes how failure of these functions causes loss of visual function. Mutations in genes that are expressed in the RPE can lead to photoreceptor degeneration. On the other hand, mutations in genes expressed in photoreceptors can lead to degenerations of the RPE. Thus both tissues can be regarded as a functional unit where both interacting partners depend on each other.

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Section: B Inherited Retinal Degenerations Are Caused By Mutations Imentioning

confidence: 95%

The Retinal Pigment Epithelium in Visual Function

Strauß

2005

Physiological Reviews

2,334

2,018

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“…Carr et al [37] suggested that the lesions appear in the superficial retina, whereas Marmor assumed they are located more deeply than [14,19] RPA [19]; enhanced S-cone syndrome [9] A crescent of increased FAF [14] Retinitis pigmentosa (RP)…”

Section: Clinical Featuresmentioning

confidence: 99%

Multimodal fundus imaging in fundus albipunctatus with RDH5 mutation: a newly identified compound heterozygous mutation and review of the literature

et al. 2012

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The aim of this study was to describe multimodal retinal imaging of fundus albipunctatus (FA) with the newly identified compound heterozygous RDH5 mutation and to review the relevant literature. Five family members were examined, and the RDH5 gene was analyzed by direct sequencing. The clinical features and genetic study of FA are reviewed. The proband had a compound heterozygotic missense mutation of Cys59Ser (TGC → AGC) and a nonsense mutation of Trp95ter (TGG → TGA) in the RDH5 gene. Fundus examination revealed diffuse yellow flecks with foveal sparing. Infrared reflectance (IR) imaging showed multiple discrete round lesions, and fundus autofluorescence (FAF) imaging showed decreased autofluorescence. In spectral domain optical coherence tomography (SD-OCT), the lesions spanned across the retinal pigment epithelium complex and the photoreceptor inner segment ellipsoid band. The outer nuclear layer thickness is decreased compared to normal control. Electroretinography (ERG) showed improved dark-adapted responses after a prolonged 2.5-h dark adaptation. The fundi of the patient's son and daughter both appeared unremarkable. The clinical findings, differential diagnosis, and genetic studies of these features are reviewed. This is the first time that IR imaging of this disease has been reported; IR imaging showed more detail than did FAF imaging. Although retinal imaging (fundus photographs, FAF, IR, SD-OCT) of FA showed characteristic findings, ERG and genetic study remain the most reliable tests for making the diagnosis.

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Primary Hereditary Oxalosis Retinopathy

Zak¹,

Buncic²

1983

Archives of Ophthalmology

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Fluorescein Angiography and Vitamin a and Oxalate Levels in Fundus Albipunctatus

Cited by 21 publications

References 5 publications

The Retinal Pigment Epithelium in Visual Function

The Retinal Pigment Epithelium in Visual Function

Multimodal fundus imaging in fundus albipunctatus with RDH5 mutation: a newly identified compound heterozygous mutation and review of the literature

Primary Hereditary Oxalosis Retinopathy

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