Avaliação do genótipo de pacientes com síndrome de Usher do Centro de Referência em Oftalmologia da Universidade Federal de Goiás

• Autor(a) principal: Cruvinel Filho, Ricardo Campos
• Data de Publicação: 2014
• Tipo de documento: Dissertação
• Idioma: por
• Título da fonte: Repositório Institucional da UFG
• dARK ID: ark:/38995/0013000000fgb
• Texto Completo: http://repositorio.bc.ufg.br/tede/handle/tede/12828
• topic: Retinose pigmentar/diagnóstico; Retinose pigmentar/genética; Perda auditiva neurosensorial/genética; Síndrome de Usher/diagnóstico molecular; Retinitis pigmentosa/ diagnosis; Retinitis pigmentosa/ genetics; Sensorineural hearing loss / genetics; Usher / molecular diagnostic syndrome; CIENCIAS DA SAUDE

Cross-sectional study conducted at the Center of Reference in Ophthalmology UFG in conjunction with Oregon Health and Science University and the Brazilian Center for Eye Surgery (CBCO). To evaluate the genotype of patients with Usher syndrome of Reference Center for Ophthalmology, Federal University of Goias (UFG-CEROF). Patients clinically diagnosed with SU underwent complete ophthalmic examination, Goldmann manual kinetic perimetry, audiometry and subsequent collection of peripheral blood chromosomal microarray for sequencing. We examined 19 patients with clinical suspicion of SU with a mean age at first visit was 42.5 years (± 12.2) and a slight predominance of males (52.63%). The most prevalent subtype in clinical diagnosis of type I disease (68.4%). The visual acuity measured on the day of the exam for eye examination was 20/92 on the Snellen chart. Examinations audiometry showed hearing loss in all patients ranging from moderate in 12.5% of patients, deep (56.25%) and severe (31.25%). In 36.8% of patients analyzed, we found at least two mutations in the same gene, and of these, 21% were heterozygous mutations, and 15.8% homozygous. The homozygous mutations, which were of the type no sense, occurred in the gene CLRN1 whose patients had a previous diagnosis of USH 2. Met 26.31% of the sample analyzed in heterozygous. Of these, two patients showed mutations in the MYO7A gene (40%), both with clinical suspicion of USH 1. For the proposed methodology, we found no disease-causing mutations in 79% of the sample analyzed. Following the proposed methodology, the authors were able to determine the mutation in seven patients of nineteen patients inclued in this study. Of these, three patients were diagnosed with homozygous mutations in gene CLRN1, and had previous clinical diagnosis of type 2. Two patients had heterozygous mutations in gene MYO7A, both with previous clinical diagnosis of type 1.