Genetic Study of Bietti Crystalline Dystrophy and Choroidal Neovascularization
Author Information
Author(s): Mamatha Gandra, Umashankar Vetrivel, Kasinathan Nachiappan, Krishnan Tandava, Sathyabaarathi Ravichandran, Karthiyayini Thirumalai, Amali John, Rao Chetan, Madhavan Jagadeesan
Primary Institution: Vision Research Foundation, Sankara Nethralaya, Chennai, India
Hypothesis
What genetic variations are associated with Bietti crystalline dystrophy and its rare occurrence of choroidal neovascularization?
Conclusion
A novel mutation was identified in a patient with Bietti crystalline dystrophy who did not have choroidal neovascularization, while those with CNV did not show any pathogenic variations.
Supporting Evidence
- Two patients with Bietti crystalline dystrophy had choroidal neovascularization.
- A novel single base-pair duplication mutation was found in one patient without CNV.
- No pathogenic variations were observed in the CYP4V2 gene in patients with CNV.
Takeaway
This study looked at three patients with a rare eye disease and found a new genetic mutation in one patient, but not in the others who had a related condition.
Methodology
Genomic DNA was isolated from blood leukocytes, and coding exons and flanking introns of CYP4V2 and exon 5 of TIMP3 were amplified and sequenced.
Limitations
The study had a small sample size and did not identify variations in the TIMP3 gene.
Participant Demographics
Three patients of Asian Indian origin with Bietti crystalline dystrophy.
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