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Natural course of visual functions in the Bardet-Biedl syndrome
A B Fulton1, R M Hansen, R J Glynn
1Department of Ophthalmology, Children's Hospital, Boston, Mass.
Insights
Visual functions in patients with Bardet-Biedl syndrome (BBS) decline significantly over time. This study tracked visual acuity and dark-adapted thresholds, revealing a poor prognosis and variable progression for BBS patients.
Area of Science:
- Ophthalmology
- Genetics
- Pediatrics
Background:
- Bardet-Biedl syndrome (BBS) is a rare genetic disorder.
- BBS is associated with a spectrum of clinical features, including progressive vision loss.
Purpose of the Study:
- To investigate the longitudinal changes in visual functions in individuals with Bardet-Biedl syndrome.
- To characterize the rate and variability of visual decline in BBS patients.
Main Methods:
- A cohort of 21 patients with Bardet-Biedl syndrome was studied.
- Visual functions, including optotype acuity, grating acuity, and dark-adapted thresholds, were measured over time.
- A random-effects model was used to analyze the course of visual functions.
Main Results:
- Significant declines in visual functions were observed.
- On average, grating and optotype acuities decreased by 0.09 log units per year.
- Dark-adapted thresholds increased by approximately 0.19 log units per year, indicating worsening vision.
Conclusions:
- The visual prognosis for children diagnosed with Bardet-Biedl syndrome is generally poor.
- The progression of both central and peripheral visual impairments in BBS is highly variable among individuals.
Objective:
To determine the course of visual functions in patients with Bardet-Biedl syndrome.
Patients And Methods:
The 21 patients with Bardet-Biedl syndrome seen at Children's Hospital, Boston, Mass, had optotype and grating acuities and dark-adapted thresholds measured over time. Their ages at first visit ranged from 2 weeks to 23 years (median age, 6 years). The courses of the visual functions were analyzed with a random-effects model.
Results:
Substantial declines in visual functions were found. On average, grating and optotype acuities declined 0.09 log units (roughly 1 line) per year, and thresholds increased about 0.19 log units per year. The rates at which these visual functions were lost and the predicted level of the visual functions at ages 11 to 12 years (the mean ages of measurement) varied among individuals.
Conclusions:
The visual prognosis for children with Bardet-Biedl syndrome is poor. The course of both central and peripheral visual functions is variable.