Document Detail


Visual acuity and retinal function in patients with Bardet-Biedl syndrome.
MedLine Citation:
PMID:  22358239     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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 dark-adapted 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.
Authors:
Adriana Berezovsky; Daniel Martins Rocha; Paula Yuri Sacai; Sung Song Watanabe; Nívea Nunes Cavascan; Solange Rios Salomão
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Clinics (São Paulo, Brazil)     Volume:  67     ISSN:  1980-5322     ISO Abbreviation:  Clinics (Sao Paulo)     Publication Date:  2012  
Date Detail:
Created Date:  2012-02-23     Completed Date:  2012-11-08     Revised Date:  2013-06-26    
Medline Journal Info:
Nlm Unique ID:  101244734     Medline TA:  Clinics (Sao Paulo)     Country:  Brazil    
Other Details:
Languages:  eng     Pagination:  145-9     Citation Subset:  IM    
Affiliation:
Universidade Federal de São Paulo/Escola Paulista de Medicina, Departamento de Oftalmologia, Brazil. aberezovsky@oftalmo.epm.br
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MeSH Terms
Descriptor/Qualifier:
Adolescent
Adult
Bardet-Biedl Syndrome / physiopathology*
Child
Dark Adaptation / physiology*
Electroretinography / methods
Female
Humans
Male
Retinal Degeneration / physiopathology*
Retinal Rod Photoreceptor Cells / physiology
Retrospective Studies
Sensory Thresholds / physiology
Visual Acuity / physiology*
Young Adult
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