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DISTROFIA RETINIANA PDF

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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To learn about the diseases included under this term, you can consult the classifications.

How to cite this article. Rdtiniana pedigree analysis of the family showed to be an autosomal recessive form of inheritance with partial expression in the heterozygote; other results were described in part I of this study.

distrofia vítreo-tapeto-retiniana – English Translation – Word Magic Spanish-English Dictionary

Whereas, electro-oculogram was subnormal and electroretinogram was subnormal with short implicit time fast in the scotopic phase of the patients with the macular dystrophy, suggesting that the site of this dystrophy is at the level of the retinal pigment epithelium. The results of the ectro-oculogram and electroretinogram distrofix within normal limits in three patients without ocular abnormalities. 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.

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Rua Casa do Ator, – cj. All the distorfia of this journal, except where otherwise noted, is licensed under a Creative Commons Attribution License.

Check this box if you wish to receive a copy of your message. Were described in part I of this study. To propose the complementation of present classification of the electroretinogram ERG with the inclusion of this new kind distrotia wave, to discuss the possible mechanisms for the scotopic fast wave retinal dystrophy SFWRD associated with the loose anagen hair syndrome LAHS and to analyze the pedigree of the studied family.

In this study, we propose an unpublished classification of all macular dystrophies and retinal degenerations associated with hair disorders in group B of ectodermal dysplasias.

Other search option s Alphabetical list. Specialised Social Services Eurordis directory. Light microscopy and scanning electron microscopy of scalp hair confirmed the loose anagen hair syndrome. Summary and related texts.

Distrofia retiniana: Qué es, causas y tratamiento – Vissum

diistrofia The documents contained in this web site are presented for information purposes only. Additional information Further information on this disease Classification s 2 Gene s Other website s 0. Macular degeneration; Hair diseases, Syndrome; Coloboma; Microscopy, electron, scanning; Microscopy, electron; Electroretinography. Only comments written in English can be processed.

Distrofias de la retina

Health care resources for this disease Expert centres Diagnostic tests Patient organisations 93 Orphan drug s Rua Casa do Ator, – cj.

This term does not characterize a disease but a group of diseases. Seven patients were submitted to the following examinations: 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. Of the four affected patients, two affected sisters showed pigmentary dispersions in the posterior pole of the distrovia with macular coloboma.

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Distrofia retiniana

How to cite this article. Only comments seeking to improve the quality and accuracy of information on the Orphanet rtiniana are accepted. Being the first account in the literature, the described finding strongly suggests that scotopic fast wave retinal dystrophy associated with the loose anagen hair syndrome can be a new nosological entity. Due to distroffia peculiar behavior of the implicit time of the wave, such finding can be considered as retinlana to make the diagnosis of this dystrophy.

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. To describe the ophthalmological findings of a new macular dystrophy associated with loose anagen hair syndrome LAHS.

Two brothers showed pigmentary dispersions in the posterior pole, with greater pigmentation and a yellowish aspect of the macular area without coloboma. All the contents of this journal, except where otherwise noted, is licensed under a Creative Commons Attribution License.

Summary This term does not characterize a disease but a group of diseases. Eleven patients of the same family, four of whom presented ocular abnormalities, were examined. Services on Demand Journal. Electroretinography; Retinal degeneration; Ectodermal dysplasia; Hypotrichosis [congenital]; Alopecia; Pigment epithelium of eye.