Journal ArticleDOI
Butterfly—Shaped Pigment Dystrophy of the Fovea
August F. Deutman,Johann D. A. van Blommestein,Harold E. Henkes,Petrus J. Waardenburg,Else Solleveld-van Driest +4 more
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TLDR
Four of five white brothers and a son of one of them were found to have peculiar, bilateral, butterfly-shaped pigment dystrophy of the fovea, which is transmitted as an autosomal dominant.Abstract:
Four of five white brothers and a son of one of them were found to have peculiar, bilateral, butterfly-shaped pigment dystrophy of the fovea. Their cases have been followed up since 1965. Three of them have normal visual acuity, and two have a slightly diminished visual acuity. Four of the five affected individuals have a pathological electro-oculogram, which reflects a diffuse abnormality of the retina. At funduscopy only two of the five affected subjects have peripheral alterations. Probably this condition is transmitted as an autosomal dominant.read more
Citations
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Butterfly-shaped pigment dystrophy of the fovea caused by a point mutation in codon 167 of the RDS gene.
Brian E. Nichols,Val C. Sheffield,Kimberlie Vandenburgh,Arlene V. Drack,Alan E. Kimura,Edwin M. Stone +5 more
TL;DR: A base substitution was identified in the peripherin (RDS) gene and DMA sequencing revealed a G to A transition in codon 167 that substitutes aspartic acid for a highly conserved glycine strongly suggesting that it causes the macular disease in this family of patients.
Journal ArticleDOI
Genetic linkage of vitelliform macular degeneration (Best's disease) to chromosome 11q13
TL;DR: A combination of ophthalmoscopy and electro–oculography was used for diagnosis and linkage analysis mapped the disease–causing gene to chromosome 11q13 and three markers in this region were found to be significantly linked to the disease.
Journal ArticleDOI
The spectrum of retinal dystrophies caused by mutations in the peripherin/RDS gene
Camiel J. F. Boon,Anneke I. den Hollander,Carel B. Hoyng,Frans P.M. Cremers,B. Jeroen Klevering,Jan E.E. Keunen +5 more
TL;DR: An overview is presented of the broad spectrum of clinical phenotypes caused by human peripherin/RDS gene mutations, ranging from various macular dystrophies to widespread forms of retinal dystrophy such as retinitis pigmentosa.
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Electro-Oculography in Best's Macular Dystrophy
Harold E. Cross,Leslie A. Bard +1 more
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Dominant Macular Degenerations the Cone Dystrophies
Alex E. Krill,August F. Deutman +1 more
References
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Journal ArticleDOI
New clinical test of retinal function based upon the standing potential of the eye
TL;DR: The abnormalities detected by this test are different in nature from those which may be demonstrated by any other diagnostic procedure, and the test is of value not only because it is an addition to the techniques available to the clinical worker but also because it sheds new light upon the nature of the disease processes.
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Electro-oculography in families with vitelliform dystrophy of the fovea. Detection of the carrier state.
TL;DR: The pathological EOG indicates that there exists a diffuse disturbance of the deeper retinal layers, possibly the pigment epithelium in individuals with vitelliform dystrophy of the fovea.