Autosomal Dominant Vitreoretinochoroidopathy

Kaufman, Stuart J.; Goldberg, Morton F.; Orth, David H.; Fishman, Gerald A.; Tessler, Howard H.; Mizuno, Katsuyoshi

doi:10.1001/archopht.1982.01030030274008

Cited by 76 publications

(48 citation statements)

References 16 publications

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“…Autosomal dominant vitreoretinochoroidopathy (ADVIRC) is classically characterized by a circumferential band of peripheral retinal hyperpigmentation with a well-defined posterior demarcation 1 and midperipheral chorioretinal atrophy. Associated ocular findings [1][2][3][4] include microcornea, microphthalmos, angle closure glaucoma, cataract, fibrillary vitreous condensations, disc gliosis, macular oedema, intraretinal white deposits, and preretinal neovascularization.…”

Section: Introductionmentioning

confidence: 99%

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BEST1-related autosomal dominant vitreoretinochoroidopathy: a degenerative disease with a range of developmental ocular anomalies

Vincent

McAlister

VandenHoven

et al. 2010

Eye

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Section: Introductionmentioning

confidence: 99%

“…Associated ocular findings [1][2][3][4] include microcornea, microphthalmos, angle closure glaucoma, cataract, fibrillary vitreous condensations, disc gliosis, macular oedema, intraretinal white deposits, and preretinal neovascularization.…”

Section: Introductionmentioning

confidence: 99%

BEST1-related autosomal dominant vitreoretinochoroidopathy: a degenerative disease with a range of developmental ocular anomalies

Vincent

McAlister

VandenHoven

et al. 2010

Eye

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“…Most ADViRc patients retain a fairly good visual acuity throughout life, although it may decrease considerably due to macular edema, chorioretinal atrophy, or retinal detachment and vitreous hemorrhage (5,20). clinical features include peripheral chorioretinal atrophy beginning near the equator, scattered yellowish-white punctate opacities throughout the retina, and retinal neovascularization (31).…”

Section: Autosomal Dominant Vitreoretinochoroidopathymentioning

confidence: 99%

Best1 Shot Through the Eye—Structure, Functions and Clinical Implications of Bestrophin-1 Protein

Moskova-Doumanova¹,

Pankov²,

Lalchev³

et al. 2013

Biotechnology & Biotechnological Equipment

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“…Autosomal dominant vitreoretinochoroidopathy was first reported in 1982 by Kaufman et al 25 The condition arises due to mutations in the gene for Best disease (VMD2). 26 The characteristic feature is a peripheral annular pigmentary dystrophy of the retina (Figure 3).…”

Section: Key Featuresmentioning

confidence: 99%

Clinical features of the congenital vitreoretinopathies

Edwards

2008

Eye

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The inherited vitreoretinal degenerations or vitreoretinopathies are characterized by congenital and acquired disorders of the eye including early onset cataract, anomalies of the vitreous manifesting as optically empty vitreous, course fibrils, and membranes, and retinal detachment. These diseases include Stickler syndrome types I (STL1) and II (STL2), usually caused by mutations in COL2A1 and COL11A1 respectively. Wagner syndrome (WGN1) is associated with mutations in versican (CSPG2) and snowflake vitreoretinal degeneration (SVD) with a mutation in a potassium channel (KCNJ13). The cataract is often cortical and may be wedge-shaped, but does not distinguish between the different syndromes. The congenital vitreous defect is usually characterized as fibrillar degeneration (STL2, WGN1, and SVD) or as a vestigial membrane just behind the lens (STL1). Peripheral chorioretinal atrophy with nyctalopia is prominent in WGN1. Intraretinal crystals may be visible in the periphery using a contact lens in SVD and corneal guttae, a flat appearance to the optic nerve head and mild atrophy of the peripheral retinal pigment epithelium are also common features. Other vitreoretinal degenerations including a number of chondrodysplasias in addition to STL1 and STL2, enhanced S-cone syndrome caused by mutations in NR2E3, and autosomal dominant vitreoretinochoroidopathy caused by mutations in VMD2 are discussed. Patients with unexplained early onset cataract or retinal detachment should be carefully evaluated for vitreoretinal degeneration. Theses diseases share overlapping clinical features with common complex traits affecting the eye (myopia, corneal endothelial dystrophy, lattice degeneration), and may provide insight into the mechanisms of common eye diseases.

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Autosomal Dominant Vitreoretinochoroidopathy

Cited by 76 publications

References 16 publications

BEST1-related autosomal dominant vitreoretinochoroidopathy: a degenerative disease with a range of developmental ocular anomalies

BEST1-related autosomal dominant vitreoretinochoroidopathy: a degenerative disease with a range of developmental ocular anomalies

Best1 Shot Through the Eye—Structure, Functions and Clinical Implications of Bestrophin-1 Protein

Clinical features of the congenital vitreoretinopathies

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