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pigmentary retinosis

Ana Maria Tavares da Costa Pinto Silva, Marta Hercog Batista Rebelo de Matos, Humberto de Castro Lima
PURPOSE: To outline low vision (LV) patients profile of the low vision department of the Instituto Brasileiro de Oftalmologia e Prevenção da Cegueira (IBOPC). METHODS: Transversal study of 82 medical charts from the low vision service at the Instituto Brasileiro de Oftalmologia e Prevenção da Cegueira of the first year of the department--2004, considering age, gender, etiology, distance and near visual acuity with and without optical aids and prescription assistance...
May 2010: Arquivos Brasileiros de Oftalmologia
Eduardo Andreghetti, Maria Rosa Bet de Moraes Silva, Newton Kara José, Maurício Maia, Mariana de Rezende Andreghetti, Valcir Coronado Antunes
PURPOSES: To establish the visually impaired resource class users profile in the city of Assis - SP, to estimate the visually impaired employment percentage and to compare employment rate with age, gender, deficiency type and causing disease between two periods:1984 - 1996 and 1997 - 2009. METHODS: Retrospective review of both medical and school records from visually impaired individuals attending visually impaired resource class in Assis - SP between 1984 and 2009...
November 2009: Arquivos Brasileiros de Oftalmologia
E Vecino
No abstract text is available yet for this article.
April 2008: Archivos de la Sociedad Española de Oftalmología
No abstract text is available yet for this article.
September 1956: Gazeta Médica Portuguesa
No abstract text is available yet for this article.
September 1954: Ophthalmologica. Journal International D'ophtalmologie
M Martínez Gimeno, M J Trujillo, B García Sandoval, T del Río, M Maseras, C Ayuso, M Carballo
Mutations in the rhodopsin cause of retinitis pigmentosa autosomal dominant (ADRP). We report a large family affected with ADRP. Analysis by denaturant gradient gel electrophoresis and direct DNA sequence detected an heterozygous G to T transversion in the exon 3 of the rhodopsin gene. This mutation damages a restriction site for Taq I enzyme and produces the change Asp-190-Tyr in rhodopsin. All carriers of the mutation show a regional RP phenotype. This mutation is responsible for the disease in this family...
November 25, 2000: Medicina Clínica
M J Trujillo, T del Río, C Reig, J Benítez, B García Sandoval, M Carballo, C Ayuso
We present a Spanish family affected with autosomal dominant pigmentary retinosis in which we have identified the mutation responsible for the disease (Pro347Leu) within the rhodopsin (RHO) gene. Complete ophthalmological and electrophysiological studies were performed in 14 members of this family. The molecular study, performed by SSCP analysis of the 5 exon and the promotor region of the rhodopsin gene, direct sequentiation and restriction analysis with the enzyme Mspl, showed a C-->T change in the second base of 347 codon of RHO gene...
April 18, 1998: Medicina Clínica
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