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Eye and hearing diseases

X-linked retinoschisis (XLRS)

An inherited disease that affects the retina, the light-sensing layer of the eye. It is seen almost always in boys. Vision gets worse in childhood; reading becomes difficult.

Not part of the panel of Türkiye's National Newborn Screening Programme (heel-prick test). Source

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This page is translated from the Turkish original.

This disease is followed through the “Eye and hearing diseases” group.

Understanding the disease

This section has not yet been reviewed by a physician. It summarises patient information from sources such as MedlinePlus, Orphanet and the NHS in plain language. The disease can differ from person to person; talk to your doctor about diagnosis and treatment.

What happens in this disease?

The retina is a thin layer that lines the back of the eye and senses light. In this disease, a gene called RS1 is faulty. Small splits form between the layers of the retina. The central area that allows sharp vision, called the macula, is affected the most. In some people, side vision also gets worse.

Which symptoms can occur?

Symptoms are usually noticed when the child starts school.

  • Reduced sharp vision in both eyes (common)
  • Difficulty reading
  • Misaligned eyes, called squint
  • Seeing far objects better, called hyperopia
  • In severe cases, involuntary shaking of the eyes in infancy
  • Detachment of the retina or bleeding inside the eye (sometimes)

How is it diagnosed?

The eye doctor does a detailed eye examination. The splits in the retina are seen with special imaging. A test that measures how the retina responds to light is also abnormal in most people. The diagnosis is confirmed by testing the RS1 gene in the blood.

Treatment and care

Care is mostly supportive. Large-print texts and vision aids help people with low vision. Sitting in the front row in class makes things easier. If retinal detachment or bleeding inside the eye occurs, a retina surgeon checks whether surgery is needed. Avoiding contact sports is recommended. Research on gene therapy is ongoing. The doctor who follows the disease decides which treatment is suitable.

For the family: inheritance and genetic counselling

The disease is passed on through the X chromosome. Because of this, almost always males are affected. Carrier women usually have no vision problems. For each child of a carrier mother, the chance of receiving the gene is 1 in 2. Sons who receive the gene are affected, and daughters are carriers. An affected father passes the gene to all his daughters, but not to his sons. Genetic counselling is recommended for the family.

Source: MedlinePlus Genetics: X-linked juvenile retinoschisis · NORD: X-linked Retinoschisis

Key facts

How common is it?
Prevalence: 1-9 per 100 000 (Worldwide)
How is it inherited?
X-linked recessive
When does it usually start?
Adolescence, Adulthood, Childhood, Infancy
Gene(s) involved
RS1

These facts are taken from Orphanet and MedlinePlus records (last checked: October 7, 2026). Frequency values are approximate ranges.

You are not alone: patient associations in Türkiye

Non-profit patient and family organizations in Türkiye working on this disease or disease group. Links are for information; Doktorclub is not affiliated with these organizations and does not endorse them.

We could not find a patient association specific to this disease.

For all rare diseases: Nadir Hastalıklar Federasyonu

Guides related to this disease

  • Rare disease at school · Telling the school, medicines and emergency plan, inclusion and BEP, support education room, absences, LGS/YKS arrangements, peer bullying.

Support and help

Doktorclub does not diagnose, recommend treatments or refer you to hospitals or doctors. These pages are meant to help you talk with your doctor.

News about Retinoschisis

Clinical trials (ClinicalTrials.gov)

A clinical trial is a regulated study that tests whether a new treatment is safe and whether it works, in patients who volunteer. Most trials look for a certain age, genetic change and health condition. Taking part is voluntary.

This list is not a treatment recommendation. Treatments tested in phase 1–3 trials are investigational (experimental): their efficacy and safety have not yet been proven and they are not approved treatments. Taking part depends on each trial’s criteria and a physician’s assessment; the first step is to talk to the doctor who manages your care.

Questions you can ask your doctor

  • Could this trial be suitable for us?
  • If we take part, how would current treatment and check-ups be affected?
  • Where does the trial take place, and how are travel and accommodation handled?
  • What happens if we want to leave the trial?

ClinicalTrials.gov lists 4 active interventional studies for this disease. 3 are recruiting now; none has a site in Türkiye. Last checked: October 7, 2026.

Selected records (studies with a site in Türkiye first):

See all studies on ClinicalTrials.gov · Joining clinical trials

Eye and hearing diseases: other news

Medical codes (for talking with your doctor and finding sources)

These codes identify the disease in international classifications and databases. They can help when you talk with your doctor or look for reliable sources.

Orphanet code: ORPHA:792 · ICD-11 9B73.11

Codes checked against WHO ICD-11 and Orphanet on October 7, 2026.

This page provides general information and does not replace diagnosis or treatment. Talk to your doctor about symptoms, diagnosis and treatment.

The information on these pages is for general information only and does not replace medical advice. Talk to your doctor about diagnosis and treatment decisions. In an emergency in Türkiye, call 112.

Every update is based on an open source and labeled with its level of evidence. No advertising and no drug brand names. Our scientific principles

This page was translated from Turkish by the Doktorclub editorial team.