J Genet Med.
2018 Jun;15(1):13-16. 10.5734/JGM.2018.15.1.13.
A novel mutation in XLRS1 gene in X-linked juvenile retinoschisis
- Affiliations
-
- 1Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Korea. bhlee@amc.seoul.kr
- 2Medical Genetics Center, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Korea.
- 3Department of Ophthalmology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.
- KMID: 2435966
- DOI: http://doi.org/10.5734/JGM.2018.15.1.13
Abstract
- X-linked juvenile retinoschisis (XLRS) is characterized by the progressive loss of visual acuity and vitreous hemorrhage. XLRS is caused by a mutation of retinoschisin 1 (RS1) gene at Xp22.13. In the current report, a 2-year-old Korean patient with XLRS was described. The germline deletion of exon 1 was identified in the RS1 gene. Considering X-linked inheritance pattern, validation of a carrier state of a patient's mother is important for the genetic counseling of other family members and for the future reproductive plan. To confirm the carrier state of his mother, the multiplex ligation-dependent probe amplification analysis was done using peripheral leukocytes and found the heterozygous deletion of exon 1 in his mother.
- Full Text Links
-
- Actions
-
Cited
- CITED
-
- Close
- Share
-
- Similar articles
-
- A Novel Mutation in the XLRS1 Gene in a Korean Family with X-linked Retinoschisis
- Bilateral Juvenile Retinoschisis in four Brothers of a Family
- Long-term Results of Vision and Fundus Findings in X-linked Juvenile Retinoschisis
- Infantile Vitreous Hemorrhage as the Initial Presentation of X-linked Juvenile Retinoschisis
- Differential Diagnosis in the Rhegmatogenous Retinal Detachment
