Las distrofias de la retina son una serie de enfermedades hereditarias de la retina que La palabra distrofia viene del griego dys, indicación de la dificultad y trophé, nutrición. Degeneración vitreo-retiniana de Wagner · Vitreorretinocoroidopatia autosómica dominante · Retinopatía pigmentaria atípica con retinosquisis. English Translation, Synonyms, Definitions and Usage Examples of Spanish Word ‘distrofia vítreo-tapeto-retiniana’. Abstract. SATO, Mário Teruo et al. Scotopic fast wave retinal dystrophy (SFWRD) associated with loose anagen hair syndrome (LAHS). Part II: Genetics.
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Electroretinography; Retinal degeneration; Ectodermal dysplasia; Hypotrichosis [congenital]; Alopecia; Pigment epithelium of eye. How to cite this article.
Of the four affected patients, two affected sisters showed pigmentary dispersions in the posterior pole of the retina with macular coloboma. Services on Demand Journal. Light microscopy and scanning electron microscopy of scalp hair confirmed the loose anagen hair syndrome.
Seven patients were submitted to the following examinations: Two brothers showed pigmentary dispersions in the posterior pole, with greater pigmentation and a yellowish aspect of the macular area without coloboma. Macular degeneration; Hair diseases, Syndrome; Coloboma; Microscopy, electron, scanning; Microscopy, electron; Electroretinography.
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To propose the complementation of present classification of the electroretinogram ERG with the inclusion of this new kind of wave, to discuss the possible mechanisms for the scotopic fast wave retinal dystrophy SFWRD associated with the loose anagen hair syndrome Disttrofia and to analyze the pedigree of the studied family.
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The results of the ectro-oculogram and electroretinogram were within normal limits in three patients without ocular abnormalities. Rua Casa do Ator, – cj. Summary This term does not characterize a disease but a group of diseases. Additional information Further information on this disease Classification s 2 Gene s Other website s 0.
Other search option s Alphabetical list. To describe the ophthalmological findings of a new macular dystrophy associated with loose anagen hair syndrome LAHS.
All the contents of this journal, except where otherwise noted, is licensed under a Creative Commons Attribution License. Were described in part I of this study. Eleven patients of the same family, four of rdtiniana presented ocular abnormalities, were examined.
We describe the findings of scotopic fast wave retinal dystrophy associated with the loose anagen hair syndrome, dystrophy whose fundoscopy findings differ between men and women and with characteristic electroretinographic tracing. In four patients, children of affected, examination was restricted to an ophthalmological examination and light microscopy and the scanning electron microscopy of the scalp hair.
Health care resources for this disease Expert centres Diagnostic tests Patient organisations 93 Orphan drug s Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted.
Due to this peculiar behavior of the implicit time of rwtiniana wave, such finding can be considered as fundamental to make the diagnosis of this dystrophy.
The pedigree analysis of the family showed to be an autosomal recessive form of inheritance with partial expression in the heterozygote; other results retinianna described in part I of this study. Services distrofix Demand Journal. To learn about the diseases included under this term, you can consult the classifications. In this study, we propose an unpublished classification of all macular dystrophies and retinal degenerations associated with hair disorders in group B of ectodermal dysplasias.
This term does not characterize a disease but a group of diseases.