We have located links that may give you full text access.
CASE REPORTS
JOURNAL ARTICLE
X-Linked retinoschisis associated to a novel intragenic microdeletion: case report.
BMC Medical Genetics 2016 January 21
BACKGROUND: X-linked retinoschisis is a recessively inherited retinal degeneration. Clinical diagnosis can be challenging due to the highly variable phenotypic presentation. Also, clinical diagnostic tests may be normal at early stages of this condition. Therefore, genetic diagnosis has become a priceless tool in the management of this disease.
CASE PRESENTATION: We present a case of a 17-year-old caucasian male with foveal and peripheral schisis, along with Mizuo-Nakamura phenomenon. RS1 sequencing led to the discovery of an in-frame deletion not previously described in the literature.
CONCLUSIONS: Genetic deletions causative of X-linked retinoschisis are quite rare, since more than 80 % are caused by misssense mutations. In this particular case, its pathological effect comes from affecting a key element of the retinoschisin, the discoidin domain.
CASE PRESENTATION: We present a case of a 17-year-old caucasian male with foveal and peripheral schisis, along with Mizuo-Nakamura phenomenon. RS1 sequencing led to the discovery of an in-frame deletion not previously described in the literature.
CONCLUSIONS: Genetic deletions causative of X-linked retinoschisis are quite rare, since more than 80 % are caused by misssense mutations. In this particular case, its pathological effect comes from affecting a key element of the retinoschisin, the discoidin domain.
Full text links
Related Resources
Get seemless 1-tap access through your institution/university
For the best experience, use the Read mobile app
All material on this website is protected by copyright, Copyright © 1994-2024 by WebMD LLC.
This website also contains material copyrighted by 3rd parties.
By using this service, you agree to our terms of use and privacy policy.
Your Privacy Choices
You can now claim free CME credits for this literature searchClaim now
Get seemless 1-tap access through your institution/university
For the best experience, use the Read mobile app