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Visual acuities and dark-adapted thresholds of children with Bardet-Biedl syndrome
M J Leys1, L A Schreiner, R M Hansen
1Department of Ophthalmology, Children's Hospital, Boston, MA 02115.
Insights
Children with Bardet-Biedl syndrome experience declining vision and reduced dark-adapted sensitivity. Early testing shows visual acuities near normal, but later decades reveal significant vision loss in Bardet-Biedl syndrome patients.
Area of Science:
- Ophthalmology
- Genetics
- Pediatrics
Background:
- Bardet-Biedl syndrome is a rare genetic disorder.
- Progressive vision loss is a hallmark of Bardet-Biedl syndrome.
- Understanding the visual trajectory in affected children is crucial for management.
Purpose of the Study:
- To assess visual acuities and dark-adapted sensitivities in children with Bardet-Biedl syndrome.
- To track changes in visual function over time.
- To establish normative data for visual parameters in this population.
Main Methods:
- Serial testing of visual acuity and dark-adapted sensitivity.
- Study included 12 children diagnosed with Bardet-Biedl syndrome.
- Data collected over multiple decades of patient follow-up.
Main Results:
- In the first decade, visual acuities were near normal.
- By the second and third decades, visual acuities significantly worsened.
- Dark-adapted sensitivity was reduced in all patients, often progressively.
Conclusions:
- Bardet-Biedl syndrome leads to progressive vision impairment and reduced night vision.
- Early visual function may be preserved, but declines with age.
- Serial monitoring is essential for understanding disease progression in Bardet-Biedl syndrome.
Abstract:
We studied the visual acuities and dark-adapted sensitivities of 12 children with Bardet-Biedl syndrome. All except one child, who was seen only once, were tested serially. In the first decade of life, all visual acuities were within 2 octaves of normal. All but two final visual acuities obtained from patients in their second and third decades were more than 2 octaves poorer than normal. Dark-adapted sensitivities of all patients were, or became, significantly less than normal even in those patients whose period of follow-up was limited to the first decade of life. Of the 11 patients measured serially, seven showed decreases in dark-adapted sensitivities of at least 0.5 log unit during the follow-up period, and the last measured sensitivities of all patients were at least 2 log units less than the normal mean.