DID YOU KNOW?
What Is X-Linked Retinoschisis (XLRS)?
Commonly referred to as XLRS, X-linked retinoschisis is
a genetic degenerative eye condition affecting about one
in 5,000 to 25,000 males worldwide.
X Is for X-Linked
Genes give instructions. Sometimes those genes can
have “mistakes” that lead to disorders. X-linked means
that the gene causing the disorder is located on the X
chromosome. Males have one X chromosome, while
females have two. Therefore, any mistake encoded on the
X chromosome leaves males vulnerable to the mistake
and damaging effects. Females will in most cases have a
backup copy of healthy “instructions” on their second X
chromosome but can be a “carrier” of the mistake to the
next generation of males.
R Is for Retinoschisis
A mutation on the RS1 gene spells trouble for the
thousands of men affected who will develop early onset
retinoschisis. The latter half of this word — schisis —
means “splitting,” which in this case refers to a splitting
of the retina. Retinal splitting can cause poor vision in
young boys that progresses into legal blindness for
Patients Needed to Develop XLRS Treatment
Applied Genetics Technology Corporation (AGTC) is
developing a gene therapy product to treat XLRS. In
animal models of XLRS, treatment with this product
leads to long-term improvement in retinal function
and prevention of retinal cell degeneration. Based on
preclinical data, AGTC is currently conducting a first in
human Phase I/II clinical study to evaluate the safety and
efficacy of an investigational gene therapy in patients
For more information and to see whether you or
someone you know qualifies to join the study, please go
to bit.ly/XLRStrial or contact firstname.lastname@example.org.*
* All study-related treatment costs, including genetic and
medical testing for eligible patients, will be provided at no charge.
Compensation for time and travel expenses may also be provided.
Track Your Vision. Drive the Research.
My Retina Tracker is an international
online registry for people with
inherited retinal diseases.
• Raise awareness of your specific disease
to researchers and companies
• Share your data to support research;
your data is only shared with qualified
researchers and with your permission
• Build knowledge about rare retinal diseases
• Put yourself on the radar for clinical trials
• Join the registry
• Create a profile
• Update your profile regularly
• Add clinical data
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