AI Article Synopsis
- Juvenile retinoschisis is a rare retinal dystrophy linked to mutations in the RS1 gene.
- Two male infants were clinically diagnosed with this condition, with one having a unique mutation not seen before in the U.S.
- Genetic testing is recommended as an effective method for confirming the diagnosis in infants.
Article Abstract
Juvenile retinoschisis is a rare retinal dystrophy caused by RS1 gene mutations.(1) Clinical examinations and molecular testing definitively diagnosed juvenile retinoschisis in 2 male infants, one of whom had a novel mutation not previously reported in the United States. Genetic testing may be the simplest way to confirm this diagnosis in infants.
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Source |
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3926297 | PMC |
| http://dx.doi.org/10.1016/j.jaapos.2008.11.005 | DOI Listing |
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