Avaliação do genótipo de pacientes com síndrome de Usher do Centro de Referência em Oftalmologia da Universidade Federal de Goiás
Nenhuma Miniatura disponível
Data
2014-12-16
Autores
Título da Revista
ISSN da Revista
Título de Volume
Editor
Universidade Federal de Goiás
Resumo
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.
Descrição
Palavras-chave
Citação
CRUVINEL FILHO, R. C. Avaliação do genótipo de pacientes com síndrome de Usher do Centro de Referência em Oftalmologia da Universidade Federal de Goiás. 2014. 86 f. Dissertação (Mestrado em Ciências da Saúde) - Universidade Federal de Goiás, Goiânia, 2014.