Objective: To detect genetic mutations associated with autosomal dominant congenital stationary night blindness (ADCSNB) in a family from Henan province.
Methods: Genomic DNA was extracted from peripheral blood samples of 14 family members. Based on 3 genes reported previously, PCR primers were designed and corresponding exons containing the mutation sites were amplified with PCR. PCR products were purified and directly sequenced.
Results: A c.281C>T heterozygous missense mutation was detected in RHO gene in all of the patients. This mutation can cause a change of the protein structure (p.Thr94Ile). The same mutation was not detected in normal individuals from the family and 50 normal controls.
Conclusion: A c.281C>T mutation in RHO gene is responsible for the onset of ADCSNB in this Chinese family and results in symptoms of night blindness.
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| http://dx.doi.org/10.3760/cma.j.issn.1003-9406.2012.02.006 | DOI Listing |
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Article Synopsis
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- The researchers analyzed refraction measurements from 127 CSNB patients between ages 0 and 21, finding that myopia generally develops quickly in early childhood but stabilizes after age 4, with only slight progression thereafter.
- The findings suggest that children with CSNB have a stable refractive error after age 4, highlighting the need for tailored myopia control approaches for this specific group.
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