Clinical Evaluation of Two Families with Mutations in BEST1
Author Information
Author(s): Piñeiro-Gallego Teresa, Álvarez María, Pereiro Inés, Campos Severiano, Sharon Dror, Schatz Patrik, Valverde Diana
Primary Institution: Universidad de Vigo, Vigo, Spain
Hypothesis
To describe the clinical and genetic findings in two consanguineous families with Best vitelliform macular dystrophy (BVMD) and homozygous mutations in the bestrophin-1 (BEST1) gene.
Conclusion
The study found significant clinical variability associated with homozygous mutations in BEST1, ranging from severe dominant BVMD to autosomal recessive bestrophinopathy.
Supporting Evidence
- Two homozygous mutations were detected in the families.
- The Spanish family had a novel homozygous missense mutation in exon 4.
- The Danish family had a previously reported mutation associated with severe dominant BVMD.
- Clinical variability was observed among affected siblings.
Takeaway
This study looked at two families with a rare eye condition caused by mutations in a specific gene, finding that the effects of these mutations can vary a lot between family members.
Methodology
Ophthalmologic examination and mutation screening were performed on family members.
Limitations
The study is limited by the small sample size and the variability in clinical presentation.
Participant Demographics
Two consanguineous families from Spain and Denmark, including four affected siblings.
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