New Mutation Linked to Lens Dislocation and Glaucoma
Author Information
Author(s): Deng Ting Dong, Bing Zhang, Xiaohui Dai, Hanjun Li, Yang
Primary Institution: Beijing Institute of Ophthalmology, Beijing Tongren Hospital, Capital University of Medical Science, Beijing, China
Hypothesis
To describe the clinical and genetic findings in one Chinese family with late-onset bilateral lens dislocation and secondary glaucoma.
Conclusion
A novel mutation in the FBN1 gene is associated with late-onset isolated ectopia lentis and secondary glaucoma.
Supporting Evidence
- The family had 20 individuals; four of them were affected by lens dislocation and secondary glaucoma.
- A novel heterozygous missense mutation, c.2860C>T (R954C), was detected in the FBN1 gene.
- This mutation was not found in 100 normal controls, indicating its potential role in the disease.
Takeaway
This study found a new genetic change in a family that causes eye problems like lens dislocation and glaucoma, which usually happens later in life.
Methodology
Clinical examination of family members, genomic DNA extraction, linkage analysis, and mutation screening.
Limitations
The study only examined one family, which may limit the generalizability of the findings.
Participant Demographics
One Chinese family with 4 affected members and 16 unaffected members.
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