Living with Juvenile retinoschisis
An inherited eye condition, mostly in boys, that blurs sharp central vision and is often found when school starts.
Understanding Juvenile retinoschisis
It mostly affects the macula, the part of the retina used for reading, driving, and recognizing faces. It is usually found when boys start school and have poor vision and reading trouble. In more severe cases, squinting and eye shaking begin in infancy. Vision often declines in childhood and the teen years, then stays steady through adulthood, with a larger decline typically in the fifties or sixties. Complications can include retinal detachment or bleeding in the eye.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Reduced sharp central vision
- Splitting of retinal layers (retinoschisis)
- Slow loss of vision over time
- Eye movement differences
- Glaucoma
- Bleeding in the eye (vitreous hemorrhage)
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include eye disease specialists and genetic specialists.
- 3Consider genetic testing
Changes in RS1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Foundation Fighting Blindness may keep lists of experts for this condition.
Care & treatment
- Care team
- Eye disease specialists (ophthalmologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: Foundation Fighting Blindness
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Foundation Fighting Blindness and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the RS1 gene cause this condition. It is X-linked, meaning the gene is on the X chromosome.
Also known as: juvenile x-linked retinoschisis; retinoschisis, x-linked; retinoschisis, x-linked recessive; rs1; x-linked juvenile retinoschisis; x-linked juvenile retinoschisis type 1
Patient organizations
- Foundation Fighting BlindnessJuvenile retinoschisis · United States
- Pediatric Retinal Research FoundationJuvenile retinoschisis · United States
You are more than your diagnosis
Perspectives from people navigating life with Juvenile retinoschisis.
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