Visual acuity and retinal function in patients with Bardet-Biedl syndrome

Visual acuity and retinal function in patients with Bardet-Biedl syndrome

Autor Berezovsky, Adriana Autor UNIFESP Google Scholar
Rocha, Daniel Martins Autor UNIFESP Google Scholar
Sacai, Paula Yuri Autor UNIFESP Google Scholar
Watanabe, Sung Song Autor UNIFESP Google Scholar
Cavascan, Nívea Nunes Autor UNIFESP Google Scholar
Salomão, Solange Rios Autor UNIFESP Google Scholar
Instituição Universidade Federal de São Paulo (UNIFESP)
Resumo OBJECTIVE: Bardet-Biedl syndrome is a genetic, multisystem disorder that causes severe visual impairment. This condition is characterized by retinal dystrophy, obesity, digit anomalies, renal disease, and hypogonadism. The purpose of this study was to analyze visual acuity and full-field electroretinogram findings in patients with the Bardet-Biedl syndrome phenotype. METHODS: The visual acuity of a group of 23 patients (15 males) with ages ranging from 6-36 years (mean = 15.8±6.4; median = 14.7) was assessed. Retinal function was evaluated by full-field electroretinography, and dark-adapted thresholds were assessed. RESULTS: Visual acuity in the better-seeing eye was 20/40 or better in 5 patients (21.7%), 20/50-20/150 in 13 (56.5%) patients, 20/200-20/400 in 2 (8.7%) patients and worse than 20/400 in one (4.3%) patient. The mean acuity in the better-seeing eye was 0.7±0.6 logMAR (20/100, Snellen equivalent). Scotopic rod and maximal responses were nondetectable in 21 (91.3%) patients, and cone responses were non-detectable in 15 (65.2%) patients. Elevated darkadapted visual thresholds were observed in all 19 patients who were able to be assessed, with 10 (52.6%) patients having thresholds greater than 30 dB. CONCLUSIONS: In a relatively young cohort of patients with Bardet-Biedl syndrome, only 21% had 20/40 or better vision. ERG scotopic responses were absent in the majority of cases, with cone responses being observed in less than half of cases. These findings showed the early deleterious effects in retinal function and visual acuity caused by this condition.
Palavra-chave Bardet-Biedl
Visual Acuity
Electroretinography
Retinal Dystrophy
Genetic Disorder
Idioma Inglês
Financiador Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)
Número do financiamento 04/02669-6 e 05/56459-5
474251/2009-8
Data de publicação 2012-01-01
Publicado em Clinics. Faculdade de Medicina / USP, v. 67, n. 2, p. 145-149, 2012.
ISSN 1807-5932 (Sherpa/Romeo, fator de impacto)
Publicador Faculdade de Medicina / USP
Extensão 145-149
Fonte http://dx.doi.org/10.6061/clinics/2012(02)09
Direito de acesso Acesso aberto Open Access
Tipo Artigo
Web of Science WOS:000300664500009
SciELO S1807-59322012000200009 (estatísticas na SciELO)
Endereço permanente http://repositorio.unifesp.br/handle/11600/6814

Exibir registro completo




Arquivo

Nome: S1807-59322012000200009.pdf
Tamanho: 213.8KB
Formato: PDF
Descrição:
Abrir arquivo

Este item está nas seguintes coleções

Buscar


Navegar

Minha conta