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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Macular degeneration; Hair diseases, Syndrome; Coloboma; Microscopy, electron, scanning; Microscopy, electron; Electroretinography. Eleven distrofiq of the same family, four of whom presented ocular abnormalities, were examined.
Services on Demand Journal. Services on Demand Journal. Rua Casa do Ator, – cj. The 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.
Rua Casa do Ator, – cj. 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. In four patients, children of affected, examination was restricted to an ophthalmological examination and light microscopy rretiniana the scanning electron microscopy retinoana the scalp hair.
Summary and related texts. The results of the ectro-oculogram and electroretinogram were within normal limits in three patients without ocular abnormalities. To describe the ophthalmological findings of a new macular dystrophy associated with loose anagen hair syndrome LAHS.
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Due to this peculiar behavior of the implicit time of the wave, such finding can be considered as fundamental to make the diagnosis of this dystrophy. For all other comments, please send your remarks via contact us. Two brothers showed pigmentary dispersions in the posterior pole, with greater pigmentation and a yellowish aspect of the macular area without coloboma.
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 LAHS and to analyze the pedigree of the studied family.
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Distrofia retiniana: Qué es, causas y tratamiento – Vissum
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. Other search option s Alphabetical list. Health care resources for this disease Expert centres Diagnostic tests Patient organisations 93 Orphan drug s This term does not characterize a disease but a group of diseases. Specialised Social Services Eurordis directory.
Were described in part I of this study. All the contents of this journal, except where otherwise noted, is licensed under a Creative Commons Attribution License.
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Electroretinography; Retinal degeneration; Ectodermal dysplasia; Hypotrichosis [congenital]; Alopecia; Pigment epithelium of eye.
Light microscopy and scanning electron microscopy of distrpfia hair confirmed the loose anagen hair syndrome. Of the four affected patients, two affected sisters showed pigmentary dispersions in the posterior pole of the retina with macular coloboma.
The material is in no way intended to replace professional medical care by a qualified specialist and should disrofia be used as a basis for diagnosis or treatment.
How to cite this article. To learn about the diseases included under this term, you can consult the classifications. Seven patients were submitted to distrofiaa following examinations: The documents contained in this web site are presented for information purposes only.
Distrofias de la retina
Additional information Further information on this disease Classification s 2 Gene s Other website s 0. Being the first account in the literature, the described finding strongly suggests that scotopic fast wave retinal dystrophy associated with the loose ristrofia hair syndrome can be a new nosological entity. Summary This term does not characterize a disease but a group of diseases.
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. All the contents of this journal, except where otherwise noted, is licensed under a Creative Xistrofia Attribution License.