Best Disease and Glaucoma: A Study of Two Families
Author Information
Author(s): Low Sancy, Davidson Alice E., Holder Graham E., Hogg Chris R., Bhattacharya Shomi S., Black Graeme C., Foster Paul J., Webster Andrew R.
Primary Institution: NIHR Biomedical Research Centre for Ophthalmology, Moorfields Eye Hospital and UCL Institute of Ophthalmology, London, UK
Hypothesis
What are the clinical and molecular characteristics of families with autosomal dominant Best disease and atypical electrooculography?
Conclusion
The study found that a near normal EOG light rise is uncommon in Best disease and is associated with the same mutation in two families.
Supporting Evidence
- The study identified a specific mutation in the BEST1 gene associated with Best disease.
- Electrooculography results showed variability among affected family members.
- Angle-closure glaucoma was present in all affected siblings of one family.
Takeaway
This study looked at two families with a rare eye disease and found that some family members had unusual test results, which could help doctors understand the disease better.
Methodology
The study involved detailed ophthalmic examinations, genetic testing, and electrooculography on affected individuals from two families.
Limitations
The study had a small sample size and relied on family history for some genetic assessments.
Participant Demographics
Participants included five individuals aged 42 to 53 from two families of white English ancestry.
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